Database IKBKGbase
Version 1.1
File ikbkgpub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/IKBKGbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF19.html
Gene IKBKG;
Disease Nemo deficiency
OMIM 300248
GDB 9864934
Sequence IDRefSeq:D0046; IDRefSeq:C0046; UniProt:Q9Y6K9
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID V14L(1); standard; MUTATION;
Accession I0040
Systematic name g.9771G>T, c.40G>T, r.40g>u, p.Val14Leu
Original code patient
Description A point mutation in the exon 2 leading to an amino acid
Description change
Date 12-May-2008 (Rel. 1, Created)
Date 12-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18412279
RefAuthors Lopez-Granados, E., Keenan, J. E., Kinney, M. C., Leo, H.,
RefAuthors Jain, N., Ma, C. A., Quinones, R., Gelfand, E. W., Jain,
RefAuthors A.
RefTitle A novel mutation in NFKBIA/IKBA results in a degradation-
RefTitle resistant N-truncated protein and is associated with
RefTitle ectodermal dysplasia with immunodeficiency.
RefLoc Hum Mutat:861-868 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 9771
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 225
Feature /codon: gtg -> ttg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 14
Feature /change: V -> L
Symptoms Sepsis
Symptoms Bacterial
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: oral candidiatis
Sex XY
Ethnic origin Caucasoid; USA
Protein IKBKG mutation
Relative
Parents Non-consanguineous
//
ID @M38X49(1); standard; MUTATION;
Accession I0022
Systematic name g.9842_9843insC, c.111_112insC, r.111_112insc, p.Met38fsX12
Description A frame shift insertion mutation in the exon 2 leading to a
Description premature stop codon
Date 20-Dec-2004 (Rel. 3, Created)
Date 20-Dec-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15577852
RefAuthors Niehues, T., Reichenbach, J., Neubert, J., Gudowius, S.,
RefAuthors Puel, A., Horneff, G., Lainka, E., Dirksen, U., Schroten,
RefAuthors H., Doffinger, R., Casanova, J. L., Wahn, V.
RefTitle Nuclear factor kappaB essential modulator-deficient child
RefTitle with immunodeficiency yet without anhidrotic ectodermal
RefTitle dysplasia.
RefLoc J Allergy Clin Immunol 114:1456-1462 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 9843
Feature /change: +c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 297
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 38
Feature /change: M -> HAAPAFRTGR SX
Sex XY
Ethnic origin Caucasoid; Poland
Status quo Deceased
Symptoms Upper respiratory tract infections
Symptoms Lower respiratory tract infections
Symptoms CNS Infections
Symptoms Encephalitis: Herpes simplex virus 1
Symptoms Autoimmune manifestations
Symptoms Autoimmune hemolytic anemia
Symptoms Other clinical features: Mycobacterium avium disease
Symptoms beginning wit multiple adenitis, later followed by
Symptoms disseminated osteomyelitis and dermatitis, Haemophilus
Symptoms influenzae and Streptococcus pneumoniae infections led to
Symptoms bronchiectasis
Treatment IVIG: constant
Comment -!-no signs of anhidrotic ectodermal dysplasia (EDA), and
Comment -!-patient has normal facial appearance, dentition, and
Comment -!-hair
//
ID E57K(1); standard; MUTATION; CC
Accession I0041
Systematic name g.9900G>A, c.169G>A, r.169g>a, p.Glu57Lys
Original code 1-SA
Description A point mutation in the exon 2 leading to an amino acid
Description change in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 9900
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 354
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 57
Feature /change: E -> K
Feature /domain: CC
Sex XX
Protein IKBKG mutation
Relative Other affected family members: Yes
Parents
//
ID R62X(1); standard; MUTATION; CC
Accession I0044
Systematic name g.9915C>T, c.184C>T, r.184c>u, p.Arg62X
Original code 5-SE
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 9915
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 369
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 62
Feature /change: R -> X
Feature /domain: CC
Sex XX
Protein IKBKG mutation
Relative
Parents
//
ID L80P(1); standard; MUTATION; CC
Accession I0024
Systematic name g.13951T>C, c.239T>C, r.239u>c, p.Leu80Pro
Original code Patient 2
Description A point mutation in the exon 3 leading to an amino acid
Description change in the CC domain
Date 07-Sep-2005 (Rel. 3, Created)
Date 07-Sep-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15833888
RefAuthors Ku, C. L., Dupuis-Girod, S., Dittrich, A. M., Bustamante,
RefAuthors J., Santos, O. F., Schulze, I., Bertrand, Y., Couly, G.,
RefAuthors Bodemer, C., Bossuyt, X., Picard, C., Casanova, J. L.
RefTitle NEMO mutations in 2 unrelated boys with severe infections
RefTitle and conical teeth.
RefLoc Pediatrics 115:e615-619 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 13951
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 424
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 80
Feature /change: L -> P
Feature /domain: CC
Sex XY
Ethnic origin Caucasoid; Germany
Symptoms Sepsis
Symptoms Bacterial: pneumococcal
Symptoms Other clinical features: 6 episodes of pneumonia (1 by
Symptoms Pseudomonas aeruginosa, 1 by H. influenzae), 3 episodes of
Symptoms orbital cellulitis between 2 and 5 years
Treatment IVIG: constant
Treatment Still on IVIG
IgA 1.25 mg/dL
IgG 12.19 mg/dL
IgM 0.2 mg/dL
//
ID #E89-1(1); standard; MUTATION; CC
Accession I0042
Systematic name g.13978_13980delAGA, c.266_268delAGA, r.266_268delaga,
Systematic name p.Glu89del
Original code 2-DA
Description An inframe deletion in the exon 3 leading to an amino acid
Description change in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0046: 13978..13980
Feature /change: -aga
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 451..453
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 89..90
Feature /change: EK -> E
Feature /domain: CC
Sex XX
Protein IKBKG mutation
Relative
Parents
//
ID D113N(1); standard; MUTATION; CC
Accession I0052
Systematic name g.14049G>A, c.337G>A, r.337g>a, p.Asp113Asn
Original code patient
Description A point mutation in the exon 3 leading to an amino acid
Description change in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18179816
RefAuthors Salt, B. H., Niemela, J. E., Pandey, R., Hanson, E. P.,
RefAuthors Deering, R. P., Quinones, R., Jain, A., Orange, J. S.,
RefAuthors Gelfand, E. W.
RefTitle IKBKG (nuclear factor-kappaB essential modulator) mutation
RefTitle can be associated with opportunistic infection without
RefTitle impairing toll-like receptor function.
RefLoc J Allergy Clin Immunol:976-982 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 14049
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 522
Feature /codon: gat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 113
Feature /change: D -> N
Feature /domain: CC
Symptoms Other clinical features: Incontinentia pigmenti
Sex XY
Ethnic origin Caucasoid
Protein IKBKG mutation
Relative
Parents
//
ID R123W(1); standard; MUTATION; CC
Accession I0043
Systematic name g.14079C>T, c.367C>T, r.367c>u, p.Arg123Trp
Original code 4-PB
Description A point mutation in the exon 3 leading to an amino acid
Description change in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 14079
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 552
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 123
Feature /change: R -> W
Feature /domain: CC
Sex XX
Protein IKBKG mutation
Relative Other affected family members: Yes
Parents
//
ID L153R(1); standard; MUTATION; CC
Accession I0001
Systematic name g.16325T>G, c.643T>G, p.L153R
Original code Patient 1
Description Point mutation in the exon 4 leading to an amino acid
Description change in the CC domain
Date 28-Jun-2002 (Rel. 3, Created)
Date 28-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12045264
RefAuthors Orange, J. S., Brodeur, S. R., Jain, A., Bonilla, F. A.,
RefAuthors Schneider, L. C., Kretschmer, R., Nurko, S., Rasmussen, W.
RefAuthors L., Kohler, J. R., Gellis, S. E., Ferguson, B. M.,
RefAuthors Strominger, J. L., Zonana, J., Ramesh, N., Ballas, Z. K.,
RefAuthors Geha, R. S.
RefTitle Deficient natural killer cell cytotoxicity in patients
RefTitle with IKK-gamma/NEMO mutations.
RefLoc J Clin Invest 109:1501-1509 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 16325
Feature /change: t -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 643
Feature /codon: ctg -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 153
Feature /change: L -> R
Feature /domain: CC
Protein IKBKG mutation
Protein Defects of IKBKG expression and/or of CD40 binding
Sex XY
Symptoms Sepsis
Symptoms Bacterial: Listeria monocytogenes
Symptoms Viral: cytomegalovirus (CMV)
Symptoms CNS Infections
Symptoms Meningitis: Streptococcus bovis
Symptoms Other clinical features: Hypohidrotic ectodermal
Symptoms dysplasia (HED)
//
ID R173G(1); standard; MUTATION; CC
Accession I0039
Systematic name g.16384C>G, c.517C>G, r.517c>g, p.Arg173Gly
Original code Patient 2
Description A point mutation in the exon 4 leading to an amino acid
Description change in the CC domain
Date 23-Apr-2007 (Rel. 1, Created)
Date 23-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16950813
RefAuthors Ku, C. L., Picard, C., Erdos, M., Jeurissen, A.,
RefAuthors Bustamante, J., Puel, A., von Bernuth, H., Filipe-Santos,
RefAuthors O., Chang, H. H., Lawrence, T., Raes, M., Marodi, L.,
RefAuthors Bossuyt, X., Casanova, J. L.
RefTitle IRAK4 and NEMO mutations in otherwise healthy children
RefTitle with recurrent invasive pneumococcal disease.
RefLoc J Med Genet:16-23 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 16384
Feature /change: c -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 702
Feature /codon: cgg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 173
Feature /change: R -> G
Feature /domain: CC
Symptoms Other clinical features: frontal bossing, hypodontia with
Symptoms conical incisors and dry skin with normal sweating,
Symptoms consistent with a mild form of anhydrotic ectodermal
Symptoms dysplasia (EDA), persistent fever with buccal cellulitis
Symptoms caused by Streptococcus pneumoniae serotype 33, at age 22
Symptoms mo a left-sided limp with no fever, and mild periorbital
Symptoms cellulitis of the left eye caused by Streptococcus
Symptoms pneumoniae serotype 33, osteomyelitis of the left talus, at
Symptoms the age 2 yr 7 mo isolated fever because of infection with
Symptoms S. pneumoniae serotype 23, three months later arthritis of
Symptoms the left hip, caused by S. pneumoniae serotype 23
Sex XY
Ethnic origin Caucasoid; Belgium
//
ID R175P(1); standard; MUTATION; CC
Accession I0008
Systematic name g.18148G>C, c.709G>C, p.R175P
Original code Patient 6
Description Point mutation in the exon 5 leading to an amino acid
Description change in the CC domain
Date 02-Jul-2002 (Rel. 3, Created)
Date 02-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 18148
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 709
Feature /codon: cgg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 175
Feature /change: R -> P
Feature /domain: CC
Protein IKBKG mutation
Sex XY
Ethnic origin UK
Relative Description of pedigree:inherited
Treatment IVIG: intermittent
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
ID Q183H(1); standard; MUTATION; CC
Accession I0076
Systematic name g.18173G>C, c.549G>C, r.549g>c, p.Gln183His
Original code Case14
Description A point mutation in the exon 5 leading to an amino acid
Description change in the CC domain
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 18173
Feature /change: g -> c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 734
Feature /codon: cag -> cac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 183
Feature /change: Q -> H
Feature /domain: CC
Age 4
Sex XX
Ethnic origin China
Family history Sporadic
//
ID L227P(1); standard; MUTATION; CC
Accession I0013
Systematic name g.19432T>C, c.865T>C, p.L227P
Original code Patient 7b
Description Point mutation in the exon 6 leading to an amino acid
Description change in the CC domain
Date 03-Jul-2002 (Rel. 3, Created)
Date 03-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 19432
Feature /change: t -> c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 865
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 227
Feature /change: L -> P
Feature /domain: CC
Protein IKBKG mutation
Sex XY
Ethnic origin Germany
Relative Other affected family members: Yes
Symptoms Other clinical features: anhidrotic ectodermal
Symptoms dysplasia (EDA)
Treatment IVIG: intermittent
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
ID Q239X(1); standard; MUTATION; CC
Accession I0045
Systematic name g.19467C>T, c.715C>T, r.715c>u, p.Gln239X
Original code 6-RE
Description A point mutation in the exon 6 leading to a premature stop
Description codon in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 19467
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 900
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 239
Feature /change: Q -> X
Feature /domain: CC
Sex XX
Protein IKBKG mutation
Relative
Parents
//
ID E240X(1); standard; MUTATION; CC
Accession I0055
Systematic name g.19470G>T, c.718G>T, r.718g>u, p.Glu240X
Original code patient
Description A point mutation in the exon 6 leading to a premature stop
Description codon in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17223894
RefAuthors Has, C., Danescu, S., Volz, A., Noh, F., Technau, K.,
RefAuthors Bruckner-Tuderman, L.
RefTitle Incontinentia pigmenti in a newborn with a novel nonsense
RefTitle mutation in the NEMO gene.
RefLoc Br J Dermatol:392-393 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 19470
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 903
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 240
Feature /change: E -> X
Feature /domain: CC
Symptoms Other clinical features: Incontinentia pigmenti
Sex XX
Ethnic origin Caucasoid; Turkey
Protein IKBKG mutation
Relative
Parents
//
ID @Q265X283(1); standard; MUTATION; CC
Accession I0027
Systematic name g.20567_20568insA, c.792_793insA, r.792_793insa,
Systematic name p.Gln265fsX19
Description A frame shift insertion mutation in the exon 7 leading to a
Description premature stop codon in the CC domain
Date 09-Jan-2006 (Rel. 1, Created)
Date 09-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16228229
RefAuthors Martinez-Pomar, N., Munoz-Saa, I., Heine-Suner, D.,
RefAuthors Martin, A., Smahi, A., Matamoros, N.
RefTitle A new mutation in exon 7 of NEMO gene: late skewed X-
RefTitle chromosome inactivation in an incontinentia pigmenti
RefTitle female patient with immunodeficiency.
RefLoc Hum Genet Oct 14;:1-8 [Epub ahead of print] 2005
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 20568
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 978
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 265
Feature /change: Q -> TAAPAGRGGP GGQTGGDRX
Feature /domain: CC
Sex XX
Comment Non-classical IP female patient suffered transient
Comment immunodeficiency. At the age of 3 years and 6 months, all
Comment immunodeficiency signs disappeared.
//
ID #E271-6(1); standard; MUTATION; CC
Accession I0023
Systematic name g.20586_20603delGAGGAGGCCCTGGTGGCC,
Systematic name c.811_828delGAGGAGGCCCTGGTGGCC,
Systematic name r.811_828delgaggaggcccugguggcc, p.Glu271_Lys277del
Original code Patient 1
Description An inframe deletion in the exon 7 leading to an amino acid
Description change in the CC domain
Date 07-Sep-2005 (Rel. 3, Created)
Date 07-Sep-2005 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15833888
RefAuthors Ku, C. L., Dupuis-Girod, S., Dittrich, A. M., Bustamante,
RefAuthors J., Santos, O. F., Schulze, I., Bertrand, Y., Couly, G.,
RefAuthors Bodemer, C., Bossuyt, X., Picard, C., Casanova, J. L.
RefTitle NEMO mutations in 2 unrelated boys with severe infections
RefTitle and conical teeth.
RefLoc Pediatrics 115:e615-619 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0046: 20586..20603
Feature /change: -gaggaggccc tggtggcc
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0046: 996..1013
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 271..276
Feature /change: -EEALVA
Feature /domain: CC
Sex XY
Ethnic origin Caucasoid; France
Symptoms Osteo-articular Infections
Symptoms Arthritis: Streptococcus pneumoniae
Symptoms Other clinical features: haemophilus influenzae lobar
Symptoms pneumonia
Treatment Prophylactic medication
Treatment prophylactic antibiotherapy (oracillin): constant
IgA 4.03 mg/dL
IgG 11.4 mg/dL
IgM 0.69 mg/dL
//
ID A288G(1); standard; MUTATION; CC
Accession I0010
Systematic name g.20638C>G, c.1048C>G, p.A288G
Original code Patient 10
Description Point mutation in the exon 7 leading to an amino acid
Description change in the CC domain
Date 02-Jul-2002 (Rel. 3, Created)
Date 02-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 20638
Feature /change: c -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1048
Feature /codon: gcc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 288
Feature /change: A -> G
Feature /domain: CC
Protein IKBKG mutation
Sex XY
Ethnic origin USA
Relative Description of pedigree:inherited
Symptoms Other clinical features: anhidrotic ectodermal
Symptoms dysplacia (EDA)
Treatment IVIG: intermittent
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
ID D311N(1); standard; MUTATION; CC
Accession I0007
Systematic name g.21312_21313insA, c.1115_1116insA, p.D311N
Original code Patient 4
Description Insertion in the exon 8 leading to an amino acid change in
Description the CC domain
Date 02-Jul-2002 (Rel. 3, Created)
Date 02-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 21313
Feature /change: g -> a
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1116
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 311
Feature /change: D -> N
Feature /domain: CC
Protein IKBKG mutation
Sex XY
Ethnic origin Caucasoid; USA
Relative Description of pedigree:inherited
Status quo Deceased
Symptoms Other clinical features: anhidrotic ectodermal
Symptoms dysplasia (EDA)
//
ID E315A(1a); standard; MUTATION; CC
Accession I0033
Systematic name g.21326A>C, c.944A>C, r.944a>c, p.Glu315Ala
Original code Kindred A, P1
Description A point mutation in the exon 8 leading to an amino acid
Description change in the CC domain
Date 20-Apr-2007 (Rel. 1, Created)
Date 20-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16818673
RefAuthors Filipe-Santos, O., Bustamante, J., Haverkamp, M. H.,
RefAuthors Vinolo, E., Ku, C. L., Puel, A., Frucht, D. M., Christel,
RefAuthors K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy,
RefAuthors A., Senechal, B., Chapgier, A., Vogt, G., de Beaucoudrey,
RefAuthors L., Fieschi, C., Picard, C., Garfa, M., Chemli, J.,
RefAuthors Bejaoui, M., Tsolia, M. N., Kutukculer, N., Plebani, A.,
RefAuthors Notarangelo, L., Bodemer, C., Geissmann, F., Israel, A.,
RefAuthors Veron, M., Knackstedt, M., Barbouche, R., Abel, L.,
RefAuthors Magdorf, K., Gendrel, D., Agou, F., Holland, S. M.,
RefAuthors Casanova, J. L.
RefTitle X-linked susceptibility to mycobacteria is caused by
RefTitle mutations in NEMO impairing CD40-dependent IL-12
RefTitle production.
RefLoc J Exp Med:1745-1759 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21326
Feature /change: a -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1129
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 315
Feature /change: E -> A
Feature /domain: CC
Symptoms Other clinical features: XR-MSMD; granulomatous cutaneous
Symptoms lesions, extensive erosive lesions of the face and arm as
Symptoms the result of M. avium complex infection, intermittent
Symptoms mycobacteremia over the last 10 yr.
Sex XY
Ethnic origin American
Relative IKBKGbase; I0034 brother
Relative IKBKGbase; I0035 nephew
Relative IKBKGbase; I0036 nephew
//
ID E315A(1b); standard; MUTATION; CC
Accession I0034
Systematic name g.21326A>C, c.944A>C, r.944a>c, p.Glu315Ala
Original code Kindred A, II.1
Description A point mutation in the exon 8 leading to an amino acid
Description change in the CC domain
Date 20-Apr-2007 (Rel. 1, Created)
Date 20-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16818673
RefAuthors Filipe-Santos, O., Bustamante, J., Haverkamp, M. H.,
RefAuthors Vinolo, E., Ku, C. L., Puel, A., Frucht, D. M., Christel,
RefAuthors K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy,
RefAuthors A., Senechal, B., Chapgier, A., Vogt, G., de Beaucoudrey,
RefAuthors L., Fieschi, C., Picard, C., Garfa, M., Chemli, J.,
RefAuthors Bejaoui, M., Tsolia, M. N., Kutukculer, N., Plebani, A.,
RefAuthors Notarangelo, L., Bodemer, C., Geissmann, F., Israel, A.,
RefAuthors Veron, M., Knackstedt, M., Barbouche, R., Abel, L.,
RefAuthors Magdorf, K., Gendrel, D., Agou, F., Holland, S. M.,
RefAuthors Casanova, J. L.
RefTitle X-linked susceptibility to mycobacteria is caused by
RefTitle mutations in NEMO impairing CD40-dependent IL-12
RefTitle production.
RefLoc J Exp Med:1745-1759 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21326
Feature /change: a -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1129
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 315
Feature /change: E -> A
Feature /domain: CC
Status quo Deceased; cause of death: Enterobacter bacteremia at 48 yr
Symptoms Other clinical features: XR-MSMD; miliary tuperculosis at
Symptoms the age of 6 yr, disseminated M. avium infection at the age
Symptoms of 40 yr
Sex XY
Ethnic origin American
Relative IKBKGbase; I0033 brother
Relative IKBKGbase; I0035 nephew
Relative IKBKGbase; I0036 nephew
//
ID E315A(1c); standard; MUTATION; CC
Accession I0035
Systematic name g.21326A>C, c.944A>C, r.944a>c, p.Glu315Ala
Original code Kindred A, III.7
Description A point mutation in the exon 8 leading to an amino acid
Description change in the CC domain
Date 20-Apr-2007 (Rel. 1, Created)
Date 20-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16818673
RefAuthors Filipe-Santos, O., Bustamante, J., Haverkamp, M. H.,
RefAuthors Vinolo, E., Ku, C. L., Puel, A., Frucht, D. M., Christel,
RefAuthors K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy,
RefAuthors A., Senechal, B., Chapgier, A., Vogt, G., de Beaucoudrey,
RefAuthors L., Fieschi, C., Picard, C., Garfa, M., Chemli, J.,
RefAuthors Bejaoui, M., Tsolia, M. N., Kutukculer, N., Plebani, A.,
RefAuthors Notarangelo, L., Bodemer, C., Geissmann, F., Israel, A.,
RefAuthors Veron, M., Knackstedt, M., Barbouche, R., Abel, L.,
RefAuthors Magdorf, K., Gendrel, D., Agou, F., Holland, S. M.,
RefAuthors Casanova, J. L.
RefTitle X-linked susceptibility to mycobacteria is caused by
RefTitle mutations in NEMO impairing CD40-dependent IL-12
RefTitle production.
RefLoc J Exp Med:1745-1759 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21326
Feature /change: a -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1129
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 315
Feature /change: E -> A
Feature /domain: CC
Status quo Deceased; cause of death: automobile accident at the age of
Status quo 10
Symptoms Other clinical features: XR-MSMD; disseminated M. avium
Symptoms infection at the age of 5 yr
Sex XY
Ethnic origin American
Relative IKBKGbase; I0033 uncle
Relative IKBKGbase; I0034 uncle
Relative IKBKGbase; I0036 brother
//
ID E315A(1d); standard; MUTATION; CC
Accession I0036
Systematic name g.21326A>C, c.944A>C, r.944a>c, p.Glu315Ala
Original code Kindred A, III.8
Description A point mutation in the exon 8 leading to an amino acid
Description change in the CC domain
Date 20-Apr-2007 (Rel. 1, Created)
Date 20-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16818673
RefAuthors Filipe-Santos, O., Bustamante, J., Haverkamp, M. H.,
RefAuthors Vinolo, E., Ku, C. L., Puel, A., Frucht, D. M., Christel,
RefAuthors K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy,
RefAuthors A., Senechal, B., Chapgier, A., Vogt, G., de Beaucoudrey,
RefAuthors L., Fieschi, C., Picard, C., Garfa, M., Chemli, J.,
RefAuthors Bejaoui, M., Tsolia, M. N., Kutukculer, N., Plebani, A.,
RefAuthors Notarangelo, L., Bodemer, C., Geissmann, F., Israel, A.,
RefAuthors Veron, M., Knackstedt, M., Barbouche, R., Abel, L.,
RefAuthors Magdorf, K., Gendrel, D., Agou, F., Holland, S. M.,
RefAuthors Casanova, J. L.
RefTitle X-linked susceptibility to mycobacteria is caused by
RefTitle mutations in NEMO impairing CD40-dependent IL-12
RefTitle production.
RefLoc J Exp Med:1745-1759 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21326
Feature /change: a -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1129
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 315
Feature /change: E -> A
Feature /domain: CC
Status quo Alive
Symptoms Other clinical features: XR-MSMD; recurrent Haemophilus
Symptoms influenzae bacteremia at the age of 6 yr, at the age of 14
Symptoms yr disseminated M. avium complex infection involving
Symptoms abdominal lymph nodes and blood. The patient remained
Symptoms mycobacteremic despite treatment with multiple antibiotics
Symptoms and IFN-gamma
Sex XY
Ethnic origin American
Relative IKBKGbase; I0033 uncle
Relative IKBKGbase; I0034 uncle
Relative IKBKGbase; I0035 brother
//
ID @E315X394(1); standard; MUTATION; CC
Accession I0047
Systematic name g.21325_21326insG, c.943_944insG, r.943_944insg,
Systematic name p.Glu315fsX80
Original code 8-MF
Description A frame shift insertion mutation in the exon 8 leading to a
Description premature stop codon in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 21326
Feature /change: +g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1129
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 315
Feature /change: E ->
Feature /change: GEAGPGEAGR EEGAPAGAAG AAAEGVQQTE GQLSGVGQDR
Feature /change: GHEEAACRGL PGPLAPRPCL PLLSPGPAQP EEEPPRGATX
Feature /domain: CC
Sex XX
Protein IKBKG mutation
Relative Other affected family members: Yes
Parents
//
ID R319Q(1); standard; MUTATION; CC
Accession I0037
Systematic name g.21338G>A, c.956G>A, r.956g>a, p.Arg319Gln
Original code Kindred B, P2
Description A point mutation in the exon 8 leading to an amino acid
Description change in the CC domain
Date 20-Apr-2007 (Rel. 1, Created)
Date 20-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16818673
RefAuthors Filipe-Santos, O., Bustamante, J., Haverkamp, M. H.,
RefAuthors Vinolo, E., Ku, C. L., Puel, A., Frucht, D. M., Christel,
RefAuthors K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy,
RefAuthors A., Senechal, B., Chapgier, A., Vogt, G., de Beaucoudrey,
RefAuthors L., Fieschi, C., Picard, C., Garfa, M., Chemli, J.,
RefAuthors Bejaoui, M., Tsolia, M. N., Kutukculer, N., Plebani, A.,
RefAuthors Notarangelo, L., Bodemer, C., Geissmann, F., Israel, A.,
RefAuthors Veron, M., Knackstedt, M., Barbouche, R., Abel, L.,
RefAuthors Magdorf, K., Gendrel, D., Agou, F., Holland, S. M.,
RefAuthors Casanova, J. L.
RefTitle X-linked susceptibility to mycobacteria is caused by
RefTitle mutations in NEMO impairing CD40-dependent IL-12
RefTitle production.
RefLoc J Exp Med:1745-1759 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21338
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1141
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 319
Feature /change: R -> Q
Feature /domain: CC
Status quo Alive
Symptoms Other clinical features: XR-MSMD; at the age of 2 yr
Symptoms persistent low-grade fever with night sweats, cough, and
Symptoms cervical and inguinal lymphadenopathy, cervical
Symptoms lymphadenitis, diarrhea with Salmonella enteritidis
Sex XY
Ethnic origin Caucasoid; Italy/Serbia origin, living in France
Parents Non-consanguineous
Comment at the age of 2 mo the patient was vaccinated with BCG
//
ID R319Q(2); standard; MUTATION; CC
Accession I0038
Systematic name g.21338G>A, c.956G>A, r.956g>a, p.Arg319Gln
Original code Kindred C, P3
Description A point mutation in the exon 8 leading to an amino acid
Description change in the CC domain
Date 20-Apr-2007 (Rel. 1, Created)
Date 20-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16818673
RefAuthors Filipe-Santos, O., Bustamante, J., Haverkamp, M. H.,
RefAuthors Vinolo, E., Ku, C. L., Puel, A., Frucht, D. M., Christel,
RefAuthors K., von Bernuth, H., Jouanguy, E., Feinberg, J., Durandy,
RefAuthors A., Senechal, B., Chapgier, A., Vogt, G., de Beaucoudrey,
RefAuthors L., Fieschi, C., Picard, C., Garfa, M., Chemli, J.,
RefAuthors Bejaoui, M., Tsolia, M. N., Kutukculer, N., Plebani, A.,
RefAuthors Notarangelo, L., Bodemer, C., Geissmann, F., Israel, A.,
RefAuthors Veron, M., Knackstedt, M., Barbouche, R., Abel, L.,
RefAuthors Magdorf, K., Gendrel, D., Agou, F., Holland, S. M.,
RefAuthors Casanova, J. L.
RefTitle X-linked susceptibility to mycobacteria is caused by
RefTitle mutations in NEMO impairing CD40-dependent IL-12
RefTitle production.
RefLoc J Exp Med:1745-1759 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21338
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1141
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 319
Feature /change: R -> Q
Feature /domain: CC
Status quo Alive
Symptoms Other clinical features: XR-MSMD; at the age of 1 yr a
Symptoms cervical abscess caused by Haemophilus influenzae b, at the
Symptoms age of 9 yr persistent low-grade fever, splenomegaly,
Symptoms marked hypergammaglobulinemia, and granulocytopenia,
Symptoms recurrent infections including bronchitis and pneumonitis,
Symptoms mycobacterial disease
Sex XY
Ethnic origin Caucasoid; Germany
Parents Non-consanguineous
//
ID A323P(1); standard; MUTATION; CC
Accession I0050
Systematic name g.21349G>C, c.967G>C, r.967g>c, p.Ala323Pro
Original code patient KB
Description A point mutation in the exon 8 leading to an amino acid
Description change in the CC domain
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17728323
RefAuthors Sebban-Benin, H., Pescatore, A., Fusco, F., Pascuale, V.,
RefAuthors Gautheron, J., Yamaoka, S., Moncla, A., Ursini, M. V.,
RefAuthors Courtois, G.
RefTitle Identification of TRAF6-dependent NEMO polyubiquitination
RefTitle sites through analysis of a new NEMO mutation causing
RefTitle incontinentia pigmenti.
RefLoc Hum Mol Genet:2805-2815 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21349
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1152
Feature /codon: gcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 323
Feature /change: A -> P
Feature /domain: CC
Symptoms Other clinical features: severe incontinentia pigmenti
Sex XX
Protein IKBKG mutation
Relative
Parents
//
ID Q332X(1); standard; MUTATION; CC
Accession I0065
Systematic name g.21376C>T, c.994C>T, r.994c>u, p.Gln332X
Original code Case6
Description A point mutation in the exon 8 leading to a premature stop
Description codon in the CC domain
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21376
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1179
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 332
Feature /change: Q -> X
Feature /domain: CC
Symptoms Hyperpigmented linear skin lesions; Mild
Symptoms hypopigmentation;
Sex XX
//
ID R359W(1); standard; MUTATION;
Accession I0056
Systematic name g.21714C>T, c.1075C>T, r.1075c>u, p.Arg359Trp
Original code Case.4
Description A point mutation in the exon 9 leading to an amino acid
Description change
Date 23-Jun-2010 (Rel. 1, Created)
Date 23-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19841577
RefAuthors Hsu, A. P., Fleisher, T. A., Niemela, J. E.
RefTitle Mutation analysis in primary immunodeficiency diseases:
RefTitle case studies.
RefLoc Curr Opin Allergy Clin Immunol:517-524 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21714
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1260
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 359
Feature /change: R -> W
Symptoms Lower respiratory tract infections
Symptoms Other clinical features: anhidrotic ectodermal dysplasia
Sex XY
Protein IKBKG mutation
Relative
Parents
Comment mother of the patient is heterozygous to the same mutation.
//
ID #R359X450(1); standard; MUTATION;
Accession I0048
Systematic name g.21716delC, c.1077delC, r.1077delc, p.His360fsX91
Original code 9-SA
Description A frame shift deletion mutation in the exon 9 leading to a
Description premature stop codon
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0046: 21716
Feature /change: -g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1262
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 359
Feature /change: R ->
Feature /change: RMSRSPRPPC PPPLPTSPLP WPCPARGGAP PRSHLTSAVP
Feature /change: SASIRPLIWT PCRYMSWSAL SRAGQCKATA CRGRARDRAV
Feature /change: CAFLSRLPSP GX
Sex XX
Protein IKBKG mutation
Relative
Parents
//
ID #P372X450(1); standard; MUTATION;
Accession I0049
Systematic name g.21754delT, c.1115delT, r.1115delu, p.Pro372fsX79
Original code 10-CL
Description A frame shift deletion mutation in the exon 9 leading to a
Description premature stop codon
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0046: 21754
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1300
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 372
Feature /change: P ->
Feature /change: LPTSPLPWPC PARGGAPPRS HLTSAVPSAS IRPLIWTPCR
Feature /change: YMSWSALSRA GQCKATACRG RARDRAVCAF LSRLPSPGX
Sex XX
Protein IKBKG mutation
Relative
Parents
//
ID Q384X(1); standard; MUTATION;
Accession I0046
Systematic name g.22087C>T, c.1150C>T, r.1150c>u, p.Gln384X
Original code 7-TE
Description A point mutation in the exon 10 leading to a premature stop
Description codon
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15229184
RefAuthors Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V.,
RefAuthors Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso,
RefAuthors M., Ursini, M. V.
RefTitle Molecular analysis of the genetic defect in a large cohort
RefTitle of IP patients and identification of novel NEMO mutations
RefTitle interfering with NF-kappaB activation.
RefLoc Hum Mol Genet:1763-1773 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22087
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1335
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 384
Feature /change: Q -> X
Sex XX
Protein IKBKG mutation
Relative
Parents
//
ID @P389X451(1); standard; MUTATION;
Accession I0054
Systematic name g.22103_22104insAC, c.1166_1167insAC, r.1166_1167insac,
Systematic name p.Glu390fsX62
Original code patient
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17417663
RefAuthors Tono, C., Takahashi, Y., Terui, K., Sasaki, S., Kamio, T.,
RefAuthors Tandai, S., Sato, T., Kudo, K., Toki, T., Tachibana, N.,
RefAuthors Yoshioka, T., Nakahata, T., Morio, T., Nishikomori, R.,
RefAuthors Ito, E.
RefTitle Correction of immunodeficiency associated with NEMO
RefTitle mutation by umbilical cord blood transplantation using a
RefTitle reduced-intensity conditioning regimen.
RefLoc Bone Marrow Transplant:801-804 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22104
Feature /change: +ac
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1352
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 389
Feature /change: P ->
Feature /change: PPRSHLTSAV PSASIRPLIW TPCRYMSWSA LSRAGQCKAT
Feature /change: ACRGRARDRA VCAFLSRLPS PGX
Symptoms Other clinical features: Incontinentia pigmenti
Sex XY
Relative Other affected family members: Yes
Parents
//
ID @E390X394(1); standard; MUTATION;
Accession I0016
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Original code HED-ID 4
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 04-Jul-2002 (Rel. 3, Created)
Date 04-Apr-2007 (Rel. 3, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11047757
RefAuthors Zonana, J., Elder, M. E., Schneider, L. C., Orlow, S. J.,
RefAuthors Moss, C., Golabi, M., Shapira, S. K., Farndon, P. A.,
RefAuthors Wara, D. W., Emmal, S. A., Ferguson, B. M.
RefTitle A novel X-linked disorder of immune deficiency and
RefTitle hypohidrotic ectodermal dysplasia is allelic to
RefTitle incontinentia pigmenti and due to mutations in IKK-
RefTitle gamma (NEMO).
RefLoc Am J Hum Genet 67:1555-1562 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Protein IKBKG mutation
Sex XY
Status quo Deceased; cause of death: diffuse mycobacterial
Status quo granulomatosis
Symptoms Other clinical features: Pseudomonas bacteremia,
Symptoms osteopetrosis
Treatment IVIG: constant
//
ID @E390X394(2); standard; MUTATION;
Accession I0019
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Original code Patient 3
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 24-Jul-2002 (Rel. 3, Created)
Date 04-Apr-2007 (Rel. 3, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Protein IKBKG mutation
Sex XY
Ethnic origin USA
Relative Description of pedigree:inherited
Status quo Deceased
//
ID @E390X394(3); standard; MUTATION;
Accession I0029
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Original code 5.5-year-old boy
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 04-Apr-2007 (Rel. 1, Created)
Date 04-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16636116
RefAuthors Schmid, J. M., Junge, S. A., Hossle, J. P., Schneider, E.
RefAuthors M., Roosnek, E., Seger, R. A., Gungor, T.
RefTitle Transient hemophagocytosis with deficient cellular
RefTitle cytotoxicity, monoclonal immunoglobulin M gammopathy,
RefTitle increased T-cell numbers, and hypomorphic NEMO mutation.
RefLoc Pediatrics:e1049-1056 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Symptoms Sepsis
Symptoms Bacterial: Klebsiella pneumoniae
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: anhydrotic ectodermal dysplasia,
Symptoms immunodeficiency, and osteopetrosis (XL-O-EDA-ID),
Symptoms hemophagocytic disease in early infancy, P. jirovegi
Symptoms pneumonia, bacterial infections with Staphylococcus aureus
Symptoms and Streptococcus pneumoniae, chronic fatique and diarrhea
Symptoms as a result of a disseminated Mycobacterium avium
Symptoms infection, pruritic eczematous skin rash
Sex XY
Ethnic origin Caucasoid; Switzerland
Parents Non-consanguineous
Treatment IVIG: constant
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
ID @E390X394(4); standard; MUTATION;
Accession I0030
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Original code XL344-04
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 18-Apr-2007 (Rel. 1, Created)
Date 18-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11179023
RefAuthors Aradhya, S., Courtois, G., Rajkovic, A., Lewis, R. A.,
RefAuthors Levy, M., Israel, A., Nelson, D. L.
RefTitle Atypical forms of incontinentia pigmenti in male
RefTitle individuals result from mutations of a cytosine tract in
RefTitle exon 10 of NEMO (IKK-gamma).
RefLoc Am J Hum Genet:765-771 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Symptoms Other clinical features: skin pigmentation and dental
Symptoms problems, immune dysfunction; multiple episodes of
Symptoms infection including meningitis and pneumonia, due to poor
Symptoms lymphocyte function and remarkably low levels of
Symptoms circulating IgG. Heat intolerance with hyperthermia,
Symptoms anhidrosis, excema, and fine sparse hair, which led to a
Symptoms diagnosis of ectodermal dysplasia (ED), hepatosplenomegaly,
Symptoms mycobacterium avium intracellulare infection
Sex XY
//
ID @E390X394(5); standard; MUTATION;
Accession I0031
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 19-Apr-2007 (Rel. 1, Created)
Date 19-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11484156
RefAuthors Kosaki, K., Shimasaki, N., Fukushima, H., Hara, M., Ogata,
RefAuthors T., Matsuo, N.
RefTitle Female patient showing hypohidrotic ectodermal dysplasia
RefTitle and immunodeficiency (HED-ID).
RefLoc Am J Hum Genet:664-666 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Status quo Deceased
Symptoms Other clinical features: hyperpigmented macules in a
Symptoms streaky configuration on the trunk and extremities,
Symptoms respiratory-tract infections, cervical lymphadenitis,
Symptoms otitis media, cellulitis and soft tissue abscesses, chronic
Symptoms lung infections with secondary bronchiectasis and pulmonary
Symptoms hypertension, renovascular hypertension, hypodontia with
Symptoms four permanent teeth missing
Sex XX
//
ID @E390X394(6); standard; MUTATION;
Accession I0051
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Original code patient
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18222329
RefAuthors Chang, T. T., Behshad, R., Brodell, R. T., Gilliam, A. C.
RefTitle A male infant with anhidrotic ectodermal
RefTitle dysplasia/immunodeficiency accompanied by incontinentia
RefTitle pigmenti and a mutation in the NEMO pathway.
RefLoc J Am Acad Dermatol:316-320 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Symptoms Other clinical features: EDA-ID with IP
Sex XY
Ethnic origin Caucasoid
Relative
Parents
//
ID @E390X394(7); standard; MUTATION;
Accession I0057
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Original code Case6
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 22-Jul-2010 (Rel. 1, Created)
Date 22-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19225723
RefAuthors Permaul, P., Narla, A., Hornick, J. L., Pai, S. Y.
RefTitle Allogeneic hematopoietic stem cell transplantation for X-
RefTitle linked ectodermal dysplasia and immunodeficiency: case
RefTitle report and review of outcomes.
RefLoc Immunol Res:89-98 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Status quo Alive
Symptoms Upper gastro-intestinal infections; Rash;
Symptoms Severe failure to thrive; Hypogammaglobulinemia;
Symptoms Leukocytosis; Eosinophilia; Severe seborrheic
Symptoms dermatitis; Chronic diarrhoea;
Sex XY
Parents Non-consanguineous
IgA 13 mg/dl, compare with normal for age: normal
IgE 7.4 kU/L, compare with normal for age: normal
IgG 71 mg/dl, compare with normal for age: low
IgM 54 mg/dl, compare with normal for age: normal
//
ID @E390X394(8); standard; MUTATION;
Accession I0085
Systematic name g.22104_22105insC, c.1167_1168insC, r.1167_1168insc,
Systematic name p.Glu390fsX5
Description A frame shift insertion mutation in the exon 10 leading to
Description a premature stop codon
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18347290
RefAuthors Mancini, A. J., Lawley, L. P., Uzel, G.
RefTitle X-linked ectodermal dysplasia with immunodeficiency caused
RefTitle by NEMO mutation: early recognition and diagnosis.
RefLoc Arch Dermatol:342-346 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22105
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046; GI:5031140; IKBKGC: 1353
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 390
Feature /change: E -> RGATX
Symptoms Other clinical features: Persistent skin eruption; Diffused
Symptoms alopecia; Erythemia; Intertrigo;
Sex XY
IgG 128 mg/dl, compare with normal for age: low
IgM 11.5 mg/dl, compare with normal for age: low
//
ID E391X(1); standard; MUTATION;
Accession I0015
Systematic name g.22108G>T, c.1356G>T, p.E391X
Original code HED-ID 2
Description Point mutation in the exon 10 leading to a premature stop
Description codon
Date 03-Jul-2002 (Rel. 3, Created)
Date 03-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11047757
RefAuthors Zonana, J., Elder, M. E., Schneider, L. C., Orlow, S. J.,
RefAuthors Moss, C., Golabi, M., Shapira, S. K., Farndon, P. A.,
RefAuthors Wara, D. W., Emmal, S. A., Ferguson, B. M.
RefTitle A novel X-linked disorder of immune deficiency and
RefTitle hypohidrotic ectodermal dysplasia is allelic to
RefTitle incontinentia pigmenti and due to mutations in IKK-
RefTitle gamma (NEMO).
RefLoc Am J Hum Genet 67:1555-1562 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22108
Feature /change: g -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0046: 1356
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 391
Feature /change: E -> X
Protein IKBKG mutation
Sex XY
Relative Description of pedigree:inherited
Relative Other affected family members: Yes
Symptoms Sepsis
Symptoms CNS Infections
Symptoms Meningitis
Symptoms Other clinical features: recurrent cellulitis, soft-tissue
Symptoms abscissis, pneumonia and giardiasis
Treatment IVIG: constant
//
ID Q403X(1); standard; MUTATION;
Accession I0002
Systematic name g.22144C>T, c.1392C>T, p.Q403X
Original code Patient 2
Description Point mutation in the exon 10 leading to a premature stop
Description codon
Date 28-Jun-2002 (Rel. 3, Created)
Date 28-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12045264
RefAuthors Orange, J. S., Brodeur, S. R., Jain, A., Bonilla, F. A.,
RefAuthors Schneider, L. C., Kretschmer, R., Nurko, S., Rasmussen, W.
RefAuthors L., Kohler, J. R., Gellis, S. E., Ferguson, B. M.,
RefAuthors Strominger, J. L., Zonana, J., Ramesh, N., Ballas, Z. K.,
RefAuthors Geha, R. S.
RefTitle Deficient natural killer cell cytotoxicity in patients
RefTitle with IKK-gamma/NEMO mutations.
RefLoc J Clin Invest 109:1501-1509 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22144
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0046: 1392
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 403
Feature /change: Q -> X
Protein IKBKG mutation
Protein Defects of IKBKG expression and/or of CD40 binding
Sex XY
Symptoms Other clinical features: sinusitis, pneumonia,
Symptoms gram-positive bacteremia, oral herpetic lesions, cutaneous
Symptoms granulomas, Hypohidrotic ectodermal dysplasia (HED)
Treatment IVIG: constant
//
ID D406V(1); standard; MUTATION;
Accession I0004
Systematic name g.22154A>T, c.1402A>T, p.D406V
Original code XHM-ED2
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 28-Jun-2002 (Rel. 3, Created)
Date 28-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11224521
RefAuthors Jain, A., Ma, C. A., Liu, S., Brown, M., Cohen, J.,
RefAuthors Strober, W.
RefTitle Specific missense mutations in NEMO result in hyper-igM
RefTitle syndrome with hypohydrotic ectodermal dysplasia.
RefLoc Nat Immunol 2:223-228 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22154
Feature /change: a -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1402
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 406
Feature /change: D -> V
Protein IKBKG mutation
Sex XY
Symptoms Upper respiratory tract infections
Symptoms Other clinical features: Hypohidrotic ectodermal
Symptoms dysplasia (HED), Patient was unable to sweat and had dry
Symptoms scaly skin
Treatment IVIG: constant
//
ID @D406X419(1); standard; MUTATION;
Accession I0018
Systematic name g.22154_22155insA, c.1402_1403insA, p.D406fsX419
Original code Patient 5a
Description Insertion in the exon 10 leading to a premature stop codon
Date 24-Jul-2002 (Rel. 3, Created)
Date 24-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0046: 22155
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0046: 1403
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 406
Feature /change: D -> EYGHPADTCH GVHX
Protein IKBKG mutation
Sex XY
Ethnic origin Caucasoid; France
Relative Description of pedigree:inherited
Status quo Deceased
//
ID C417F(1); standard; MUTATION;
Accession I0009
Systematic name g.22187G>T, c.1435G>T, p.C417F
Original code Patient 8
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 02-Jul-2002 (Rel. 3, Created)
Date 02-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22187
Feature /change: g -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1435
Feature /codon: tgc -> ttc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 417
Feature /change: C -> F
Protein IKBKG mutation
Sex XY
Ethnic origin UK
Relative Description of pedigree:inherited
Symptoms Other clinical features: anhidrotic ectodermal
Symptoms dysplacia (EDA)
Treatment IVIG: intermittent
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
ID C417F(2); standard; MUTATION;
Accession I0017
Systematic name g.22187G>T, c.1435G>T, p.C417F
Original code HED-ID 3
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 04-Jul-2002 (Rel. 3, Created)
Date 04-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11047757
RefAuthors Zonana, J., Elder, M. E., Schneider, L. C., Orlow, S. J.,
RefAuthors Moss, C., Golabi, M., Shapira, S. K., Farndon, P. A.,
RefAuthors Wara, D. W., Emmal, S. A., Ferguson, B. M.
RefTitle A novel X-linked disorder of immune deficiency and
RefTitle hypohidrotic ectodermal dysplasia is allelic to
RefTitle incontinentia pigmenti and due to mutations in IKK-
RefTitle gamma (NEMO).
RefLoc Am J Hum Genet 67:1555-1562 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22187
Feature /change: g -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1435
Feature /codon: tgc -> ttc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 417
Feature /change: C -> F
Protein IKBKG mutation
Sex XY
Ethnic origin Caucasoid
Relative Description of pedigree:inherited
Relative Other affected family members: Yes
Symptoms Sepsis
Symptoms Bacterial: pneumococci
Symptoms CNS Infections
Symptoms Meningitis: pneumococci
Symptoms Other clinical features: pneumococcal pneumonia, recurrent
Symptoms cellulitis, soft-tissue abscesses, giardiasis
Treatment IVIG: constant
//
ID C417R(1); standard; MUTATION;
Accession I0003
Systematic name g.22186T>C, c.1434T>C, p.C417R
Original code Patient 3
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 28-Jun-2002 (Rel. 3, Created)
Date 28-Jun-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12045264
RefAuthors Orange, J. S., Brodeur, S. R., Jain, A., Bonilla, F. A.,
RefAuthors Schneider, L. C., Kretschmer, R., Nurko, S., Rasmussen, W.
RefAuthors L., Kohler, J. R., Gellis, S. E., Ferguson, B. M.,
RefAuthors Strominger, J. L., Zonana, J., Ramesh, N., Ballas, Z. K.,
RefAuthors Geha, R. S.
RefTitle Deficient natural killer cell cytotoxicity in patients
RefTitle with IKK-gamma/NEMO mutations.
RefLoc J Clin Invest 109:1501-1509 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22186
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1434
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 417
Feature /change: C -> R
Protein IKBKG mutation
Protein Defects of IKBKG expression and/or of CD40 binding
Sex XY
Symptoms Osteo-articular Infections
Symptoms Osteomyelitis: Mycobacterium abscessus
Symptoms Other clinical features: Staphylococcus aureus adenitis,
Symptoms Klebsiella pneumoniae bacteremia, Hypohidrotic ectodermal
Symptoms dysplasia (HED)
Treatment IVIG: constant
//
ID C417R(2a); standard; MUTATION;
Accession I0011
Systematic name g.22186T>C, c.1434T>C, p.C417R
Original code Patient 9a
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 03-Jul-2002 (Rel. 3, Created)
Date 03-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22186
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1434
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 417
Feature /change: C -> R
Protein IKBKG mutation
Sex XY
Ethnic origin USA
Relative IKBKGbase; I0012 brother
Relative Other affected family members: Yes
Status quo Deceased
Symptoms Other clinical features: anhidrotic ectodermal
Symptoms dysplasia (EDA)
Treatment IVIG: intermittent
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
ID C417R(2b); standard; MUTATION;
Accession I0012
Systematic name g.22186T>C, c.1434T>C, p.C417R
Original code Patient 9b
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 03-Jul-2002 (Rel. 3, Created)
Date 03-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22186
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1434
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 417
Feature /change: C -> R
Protein IKBKG mutation
Sex XY
Ethnic origin USA
Relative IKBKGbase; I0011 brother
Relative Other affected family members: Yes
Symptoms Other clinical features: anhidrotic ectodermal
Symptoms dysplasia (EDA)
Treatment IVIG: intermittent
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
ID C417R(3); standard; MUTATION;
Accession I0014
Systematic name g.22186T>C, c.1434T>C, p.C417R
Original code XHM-ED1
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 03-Jul-2002 (Rel. 3, Created)
Date 03-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11224521
RefAuthors Jain, A., Ma, C. A., Liu, S., Brown, M., Cohen, J.,
RefAuthors Strober, W.
RefTitle Specific missense mutations in NEMO result in hyper-igM
RefTitle syndrome with hypohydrotic ectodermal dysplasia.
RefLoc Nat Immunol 2:223-228 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22186
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1434
Feature /codon: tgc -> cgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 417
Feature /change: C -> R
Protein IKBKG mutation
Sex XY
Symptoms Upper respiratory tract infections
Symptoms Other clinical features: Hypohidrotic ectodermal
Symptoms dysplasia. Patient was unable to sweat and had dry scaly
Symptoms skin
Treatment IVIG: constant
//
ID C417Y(1); standard; MUTATION;
Accession I0020
Systematic name g.22187G>A, c.1250G>A, r.1250g>a, p.Cys417Tyr
Original code Patient 4
Description A point mutation in the exon 10 leading to an amino acid
Description change
Date 11-May-2004 (Rel. 3, Created)
Date 11-May-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15100680
RefAuthors Orange, J. S., Jain, A., Ballas, Z. K., Schneider, L. C.,
RefAuthors Geha, R. S., Bonilla, F. A.
RefTitle The presentation and natural history of immunodeficiency
RefTitle caused by nuclear factor kappaB essential modulator
RefTitle mutation.
RefLoc J Allergy Clin Immunol 113:725-733 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22187
Feature /change: g -> a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0046: 1435
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 417
Feature /change: C -> Y
Sex XY
Ethnic origin Caucasoid
Symptoms CNS Infections
Symptoms Meningitis: Pneumococcus, associated with a febrile
Symptoms seizure
Symptoms Other clinical features: lichnoid dermatitis
//
ID @X420+27(1); standard; MUTATION;
Accession I0005
Systematic name g.22196A>G, c.1444A>G, p.420
Original code Patient 1
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 02-Jul-2002 (Rel. 3, Created)
Date 02-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22196
Feature /change: a -> g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: terminator
Feature /loc: IDRefSeq: C0046: 1444
Feature aa; 3
Feature /rnalink: 2
Feature /name: elongation
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 420
Feature /change: X -> WGRPVQGHCL PRTCPGPCSL RFPLPPAX
Protein IKBKG mutation
Sex XY
Ethnic origin Caucasoid; UK
Relative Description of pedigree:inherited
Status quo Deceased
Symptoms Other clinical features: osteopetrosis, lymphoedema,
Symptoms anhidrotic ectodermal dysplasia (EDA)
//
ID @X420+27(2); standard; MUTATION;
Accession I0006
Systematic name g.22196A>G, c.1444A>G, p.420
Original code Patient 2
Description Point mutation in the exon 10 leading to an amino acid
Description change
Date 02-Jul-2002 (Rel. 3, Created)
Date 02-Jul-2002 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11242109
RefAuthors Doffinger, R., Smahi, A., Bessia, C., Geissmann, F.,
RefAuthors Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S.,
RefAuthors Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H.,
RefAuthors Headon, D. J., Overbeek, P. A., Le Deist, F., Holland, S.
RefAuthors M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro,
RefAuthors R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M.,
RefAuthors Munnich, A., Israël, A., Courtois, G., Casanova, J. L.
RefTitle X-linked anhidrotic ectodermal dysplasia with
RefTitle immunodeficiency is caused by impaired NF-kappaB
RefTitle signaling.
RefLoc Nat Genet 27:277-285 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22196
Feature /change: a -> g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: terminator
Feature /loc: IDRefSeq: C0046: 1444
Feature aa; 3
Feature /rnalink: 2
Feature /name: elongation
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 420
Feature /change: X -> WGRPVQGHCL PRTCPGPCSL RFPLPPAX
Protein IKBKG mutation
Sex XY
Ethnic origin Caucasoid; France
Relative Description of pedigree:inherited
Status quo Deceased
Symptoms Other clinical features: osteopetrosis, lymphoedema,
Symptoms anhidrotic ectodermal dysplasia (EDA)
//
ID @X420+27(3); standard; MUTATION;
Accession I0032
Systematic name g.22196A>G, c.1259A>G, r.1259a>g, p.420
Original code IP85
Description A point mutation in the exon 10 leading to an amino acid
Description change
Date 20-Apr-2007 (Rel. 1, Created)
Date 20-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11241484
RefAuthors Mansour, S., Woffendin, H., Mitton, S., Jeffery, I.,
RefAuthors Jakins, T., Kenwrick, S., Murday, V. A.
RefTitle Incontinentia pigmenti in a surviving male is accompanied
RefTitle by hypohidrotic ectodermal dysplasia and recurrent
RefTitle infection.
RefLoc Am J Med Genet:172-177 (2001)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 22196
Feature /change: a -> g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: terminator
Feature /loc: IDRefSeq: C0046: 1444
Feature aa; 3
Feature /rnalink: 2
Feature /name: elongation
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 420
Feature /change: X -> WGRPVQGHCL PRTCPGPCSL RFPLPPAX
Status quo Deceased
Symptoms Other clinical features: hematological disturbancies,
Symptoms failure to thrive due to malabsorption, recurrent
Symptoms infections and lymphedema of his lower limbs,
Symptoms hepatosplenomegaly, anemia, thrombocytopenia, IP features:
Symptoms generalized reticular skin hyperpigmentation, sparse hair
Symptoms and delayed eruption of teeth
Sex XY
//
ID Intron 6(1a); standard; MUTATION;
Accession I0025
Systematic name g.IVS6+5G>A, c.G>A, r.g>a,
Original code Patient III-4
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 09-Jan-2006 (Rel. 1, Created)
Date 09-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16333836
RefAuthors Orstavik, K. H., Kristiansen, M., Knudsen, G. P.,
RefAuthors Storhaug, K., Vege, A., Eiklid, K., Abrahamsen, T. G.,
RefAuthors Smahi, A., Steen-Johnsen, J.
RefTitle Novel splicing mutation in the NEMO (IKK-gamma) gene with
RefTitle severe immunodeficiency and heterogeneity of X-chromosome
RefTitle inactivation.
RefLoc Am J Med Genet A 140:31-39 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 19525
Feature /change: g -> a
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0046: 585..953
Feature /change: -cagatggctg aggacaaggc ctctgtgaaa gcccaggtga
Feature /change: cgtccttgct cggggagctg caggagagcc agagtcgctt
Feature /change: ggaggctgcc actaaggaat gccaggctct ggagggtcgg
Feature /change: gcccgggcgg ccagcgagca ggcgcggcag ctggagagtg
Feature /change: agcgcgaggc gctgcagcag cagcacagcg tgcaggtgga
Feature /change: ccagctgcgc atgcagggcc agagcgtgga ggccgcgctc
Feature /change: cgcatggagc gccaggccgc ctcggaggag aagaggaagc
Feature /change: tggcccagtt gcaggtggcc tatcaccagc tcttccaaga
Feature /change: atacgacaac cacatcaaga gcagcgtggt gggcagtgag
Feature /change: cggaagcga
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 134..256
Feature /change: -QMAEDKASVK AQVTSLLGEL QESQSRLEAA TKECQALEGR
Feature /change: ARAASEQARQ LESEREALQQ QHSVQVDQLR MQGQSVEAAL
Feature /change: RMERQAASEE KRKLAQLQVA YHQLFQEYDN HIKSSVVGSE RKR
Feature /domain: CC
Sex XY
Relative IKBKGbase; I0026 cousin
//
ID Intron 6(1b); standard; MUTATION;
Accession I0026
Systematic name g.IVS6+5G>A, c.G>A, r.g>a,
Original code Patient III-7
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 09-Jan-2006 (Rel. 1, Created)
Date 09-Jan-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16333836
RefAuthors Orstavik, K. H., Kristiansen, M., Knudsen, G. P.,
RefAuthors Storhaug, K., Vege, A., Eiklid, K., Abrahamsen, T. G.,
RefAuthors Smahi, A., Steen-Johnsen, J.
RefTitle Novel splicing mutation in the NEMO (IKK-gamma) gene with
RefTitle severe immunodeficiency and heterogeneity of X-chromosome
RefTitle inactivation.
RefLoc Am J Med Genet A 140:31-39 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 19525
Feature /change: g -> a
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0046: 585..953
Feature /change: -cagatggctg aggacaaggc ctctgtgaaa gcccaggtga
Feature /change: cgtccttgct cggggagctg caggagagcc agagtcgctt
Feature /change: ggaggctgcc actaaggaat gccaggctct ggagggtcgg
Feature /change: gcccgggcgg ccagcgagca ggcgcggcag ctggagagtg
Feature /change: agcgcgaggc gctgcagcag cagcacagcg tgcaggtgga
Feature /change: ccagctgcgc atgcagggcc agagcgtgga ggccgcgctc
Feature /change: cgcatggagc gccaggccgc ctcggaggag aagaggaagc
Feature /change: tggcccagtt gcaggtggcc tatcaccagc tcttccaaga
Feature /change: atacgacaac cacatcaaga gcagcgtggt gggcagtgag
Feature /change: cggaagcga
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 134..256
Feature /change: -QMAEDKASVK AQVTSLLGEL QESQSRLEAA TKECQALEGR
Feature /change: ARAASEQARQ LESEREALQQ QHSVQVDQLR MQGQSVEAAL
Feature /change: RMERQAASEE KRKLAQLQVA YHQLFQEYDN HIKSSVVGSE RKR
Feature /domain: CC
Sex XY
Relative IKBKGbase; I0025 cousin
//
ID Intron 8(1); standard; MUTATION;
Accession I0021
Systematic name g.IVS8-1G>A, c.G>A, r.g>a,
Original code Patient 5
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 11-May-2004 (Rel. 3, Created)
Date 11-May-2004 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15100680
RefAuthors Orange, J. S., Jain, A., Ballas, Z. K., Schneider, L. C.,
RefAuthors Geha, R. S., Bonilla, F. A.
RefTitle The presentation and natural history of immunodeficiency
RefTitle caused by nuclear factor kappaB essential modulator
RefTitle mutation.
RefLoc J Allergy Clin Immunol 113:725-733 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21694
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0046: 1242..1302
Feature /change: -atcgaggaca tgaggaagcg gcatgtcgag gtctcccagg
Feature /change: cccccttgcc ccccgcccct g
Feature /note: deletion of exon 9
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y6K9; NEMO_HUMAN: 353..373
Feature /change: IEDMRKRHVE VSQAPLPPAP A ->
Feature /change: PTSPLPWPCP ARGGAPPRSH LTSAVPSASI RPLIWTPCRY
Feature /change: MSWSALSRAG QCKATACRGR ARDRAVCAFL SRLPSPGX
Feature /domain: CC
Sex XY
Ethnic origin Caucasoid
Symptoms Sepsis
Symptoms Bacterial: Haemophilus influenzae
Symptoms Other clinical features: M. bovis; disseminated cutaneous
Symptoms disease
//
ID Intron 8(2); standard; MUTATION;
Accession I0053
Systematic name g.IVS8-5T>C, c.T>C, r.u>c
Original code patient
Description A point mutation in the intron 8 leading to an amino acid
Description change
Date 13-May-2008 (Rel. 1, Created)
Date 13-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17910706
RefAuthors Zou, C. C., Zhao, Z. Y.
RefTitle Clinical and molecular analysis of NF-kappaB essential
RefTitle modulator in chinese incontinentia pigmenti patients.
RefLoc Int J Dermatol:1017-1022 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0046: 21690
Feature /change: c -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Other clinical features: Incontinentia pigmenti
Sex XX
Ethnic origin Mongoloid; China
Relative
Parents
//
ID Deletion (1); standard; MUTATION;
Accession I0058
Systematic name c.400-?_1845+?del
Original code Case2
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Vesicular skin lesions; Hyperpigmentation;
Symptoms Hypopigmentation; Atropic linear lesions; Seizures;
Symptoms Microcephaly; Strabismus;
Sex XX
//
ID Deletion (2); standard; MUTATION;
Accession I0059
Systematic name c.400-?_1845+?del
Original code Case3
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Vesicular skin lesions; Atrial septal defect;
Symptoms Hyperpigmented lesions; Hypopigmented lesions; Atrophy
Symptoms of the skin; Delayed dentition; Thin-sparse hair;
Sex XX
//
ID Deletion (3); standard; MUTATION;
Accession I0060
Systematic name c.400-?_1845+?del
Original code Case4
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Conical shaped teeth; Seizures; Delayed dentition;
Symptoms Hyperpigmented linear skin lesions;
Sex XX
//
ID Deletion (4); standard; MUTATION;
Accession I0061
Systematic name c.400-?_1845+?del
Original code Case5
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Verrucous skin lesions; Mental retardation;
Symptoms Hyper and hypo-pigmentation;
Sex XX
//
ID Deletion (5); standard; MUTATION;
Accession I0062
Systematic name c.400-?_1845+?del
Original code Case8
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Vesicular and verrucous skin lesions; Delayed
Symptoms dentition; Hyperpigmented lesions;
Sex XX
//
ID Deletion (6); standard; MUTATION;
Accession I0063
Systematic name c.400-?_1845+?del
Original code Case10
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Vesicular and verrucous skin lesions;
Symptoms Hyperpigmented lesions;
Sex XX
//
ID Deletion (7); standard; MUTATION;
Accession I0064
Systematic name c.400-?_1845+?del
Original code Case11
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20586999
RefAuthors Fryssira, H., Kakourou, T., Valari, M., Stefanaki, K.,
RefAuthors Amenta, S., Kanavakis, E.
RefTitle Incontinentia pigmenti revisited. A novel nonsense
RefTitle mutation of the IKBKG gene.
RefLoc Acta Paediatr:i (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Vesicular and verrucous skin lesions; Delayed
Symptoms dentition; Hyperpigmented lesions;
Sex XX
//
ID Deletion (8); standard; MUTATION;
Accession I0066
Systematic name c.400-?_1845+?del
Original code Case1
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Retinal detachment; Loss of vision;
Age 6
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (9); standard; MUTATION;
Accession I0067
Systematic name c.400-?_1845+?del
Original code Case2
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Verrucous lesions; Psychomotor retardation;
Symptoms Abnormal computed tomography; Retinal detachment;
Symptoms Esotropia; Ventral and atrial septal defects;
Symptoms Bone defects;
Age 1
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (10); standard; MUTATION;
Accession I0068
Systematic name c.400-?_1845+?del
Original code Case3
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Strabismus; Crown defect;
Symptoms Retinal detachment;
Age 16
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (11); standard; MUTATION;
Accession I0069
Systematic name c.400-?_1845+?del
Original code Case4
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Linear and pigmented patches; Hypopigmented and
Symptoms atrophic lesions;
Age 28
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (12); standard; MUTATION;
Accession I0070
Systematic name c.400-?_1845+?del
Original code Case6
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Age 12
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (13); standard; MUTATION;
Accession I0071
Systematic name c.400-?_1845+?del
Original code Case7
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Age 2
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (14); standard; MUTATION;
Accession I0072
Systematic name c.400-?_1845+?del
Original code Case11
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Verrucous lesions; Crown defect;
Age 9
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (15a); standard; MUTATION;
Accession I0073
Systematic name c.400-?_1845+?del
Original code Case12
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Verrucous lesions; Seizure; Abnormal computed
Symptoms tomography; Amblyopia;
Age 25
Sex XX
Ethnic origin China
Family history Inherited
Relative IKBKGbase; I0074; mother
//
ID Deletion (15b); standard; MUTATION;
Accession I0074
Systematic name c.400-?_1845+?del
Original code CaseM12
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering;
Age 53
Sex XX
Ethnic origin China
Relative IKBKGbase; I0073; daughter
//
ID Deletion (16); standard; MUTATION;
Accession I0075
Systematic name c.400-?_1845+?del
Original code Case13
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Age 7
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (17a); standard; MUTATION;
Accession I0077
Systematic name c.400-?_1845+?del
Original code Case15
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Verrucous lesions;
Age 8 mo
Sex XX
Ethnic origin China
Family history Inherited
Relative IKBKGbase; I0078; mother
//
ID Deletion (17b); standard; MUTATION;
Accession I0078
Systematic name c.400-?_1845+?del
Original code CaseM15
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Age 35
Sex XX
Ethnic origin China
Relative IKBKGbase; I0077; daughter
//
ID Deletion (18a); standard; MUTATION;
Accession I0079
Systematic name c.400-?_1845+?del
Original code Case17
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Hemiparesis; Abnormal computed tomography; Nystagmus;
Symptoms Loss of vision;
Age 25
Sex XX
Ethnic origin China
Family history Inherited
Relative IKBKGbase; I0080; mother
//
ID Deletion (18b); standard; MUTATION;
Accession I0080
Systematic name c.400-?_1845+?del
Original code CaseM17
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Age 53
Sex XX
Ethnic origin China
Relative IKBKGbase; I0079; daughter
//
ID Deletion (19); standard; MUTATION;
Accession I0081
Systematic name c.400-?_1845+?del
Original code Case18
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Verrucous lesions;
Age 4 mo
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (20); standard; MUTATION;
Accession I0082
Systematic name c.400-?_1845+?del
Original code Case20
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Cutaneous blistering; Linear and pigmented patches;
Symptoms Verrucous lesions;
Age 4 mo
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (21); standard; MUTATION;
Accession I0083
Systematic name c.400-?_1845+?del
Original code Case21
Description Deletion of exons 4-10
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20434027
RefAuthors Hsiao, P. F., Lin, S. P., Chiang, S. S., Wu, Y. H., Chen,
RefAuthors H. C., Lin, Y. C.
RefTitle NEMO gene mutations in chinese patients with incontinentia
RefTitle pigmenti.
RefLoc J Formos Med Assoc:192-200 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Linear and pigmented patches;
Age 16
Sex XX
Ethnic origin China
Family history Sporadic
//
ID Deletion (22); standard; MUTATION;
Accession I0084
Systematic name c.400-?_1845+?del
Description Deletion of exons 4-10
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18241293
RefAuthors Loh, N. R., Jadresic, L. P., Whitelaw, A.
RefTitle A genetic cause for neonatal encephalopathy: incontinentia
RefTitle pigmenti with NEMO mutation.
RefLoc Acta Paediatr:379-381 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 4.10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Repeated seizures; Erythematous, vesicular or
Symptoms verrucous lesions and faint scars;
Symptoms Retinal detachment; Loss of vision;
Sex XX
Family history de novo
//
ID Insertion(1); standard; MUTATION;
Accession I0028
Description A duplication of a 4.4-kb sequence including the region
Description from intron 3 to exon 6
Date 04-Apr-2007 (Rel. 1, Created)
Date 04-Apr-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14726382
RefAuthors Nishikomori, R., Akutagawa, H., Maruyama, K., Nakata-
RefAuthors Hizume, M., Ohmori, K., Mizuno, K., Yachie, A., Yasumi,
RefAuthors T., Kusunoki, T., Heike, T., Nakahata, T.
RefTitle X-linked ectodermal dysplasia and immunodeficiency caused
RefTitle by reversion mosaicism of NEMO reveals a critical role for
RefTitle NEMO in human T-cell development and/or survival.
RefLoc Blood:4565-4572 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /genomic_region: intron 3 - exon 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Sepsis
Symptoms Bacterial: pneumococcal and Pseudomonas aeruginosa
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: hypohidrosis, coarse hair, delayed
Symptoms eruption of teeth, transient lower extremity lymphedema,
Symptoms interstitial pneumonitis, recurrent bacterial infections
Symptoms and febrile episodes due to a Staphylococcus aureus skin
Symptoms abscess, pneumonia, Pseudomonas aeruginosa otitis media,
Symptoms failure to thrive
Sex XY
Parents Non-consanguineous
//
//
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