Database NFKBIAbase
Version 1.0
File nfkbiapub.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/NFKBIAbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF121.html
Gene NFKBIA
Disease Autosomal dominant anhidrotic ectodermal dysplasia
Disease and T-cell immunodeficiency
OMIM 164008
Sequence IDRefSeq:D0063; IDRefSeq:C0063; UniProt:P25963
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID S32I(1); standard; MUTATION;
Accession N0001
Systematic name g.1189G>T, c.95G>T, r.95g>u, p.Ser32Ile
Original code Patient P
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 23-Dec-2003 (Rel. 3, Created)
Date 23-Dec-2003 (Rel. 3, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14523047
RefAuthors Courtois, G., Smahi, A., Reichenbach, J., Doffinger, R.,
RefAuthors Cancrini, C., Bonnet, M., Puel, A., Chable-Bessia, C.,
RefAuthors Yamaoka, S., Feinberg, J., Dupuis-Girod, S., Bodemer, C.,
RefAuthors Livadiotti, S., Novelli, F., Rossi, P., Fischer, A.,
RefAuthors Israël, A., Munnich, A., Le Deist, F., Casanova, J. L.
RefTitle A hypermorphic ikappaBalpha mutation is associated with
RefTitle autosomal dominant anhidrotic ectodermal dysplasia and T
RefTitle cell immunodeficiency.
RefLoc J Clin Invest 112:1108-1115 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0063: 1189
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0063: 189
Feature /codon: agc -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P25963; IKBA_HUMAN: 32
Feature /change: S -> I
Sex XY
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: recurrent bronchopneumonitis,
Symptoms hepatosplenomegaly, failure to thrive
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment Total parenteral nutrition: Yes
Treatment Bone marrow transplantation: Yes
IgA <0.1 mg/dl
IgG <1 mg/dl
IgM 5 mg/dl
Lymphocytes Immunophenotypes:
Lymphocytes total CD3: 71%
Lymphocytes total CD4: 53%
Lymphocytes total CD4 CD45RA: 92%
Lymphocytes total CD8 CD45RA: 71%
Lymphocytes total CD4 CD45RO: 1%
Lymphocytes total CD8 CD45RO: 0%
Lymphocytes total CD19: 23%
Lymphocytes total CD16 and CD56: 10%
//
ID E14X(1); standard; MUTATION;
Accession N0002
Systematic name g.1134G>T, c.40G>T, r.40g>u, p.Glu14X
Description A point mutation in the exon 1 leading to a premature stop
Description codon
Date 18-Aug-2010 (Rel. 3, Created)
Date 18-Aug-2010 (Rel. 3, 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: D0063: 1134
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: M69043; GI:187290; : 134
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P25963; IKBA_HUMAN: 14
Feature /change: E -> X
Symptoms Lower respiratory tract infections
Symptoms Sepsis
Symptoms Bacterial
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: absence of sweat glands
Symptoms (Anhidrosis)
Sex XY
Ethnic origin Caucasoid
Parents Non-consanguineous
IgA 38 mg/dl
IgG 515 mg/dl
IgM 33 mg/dl
Treatment Prophylactic medication
Treatment antibiotics: intermittent
//
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