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   IKBKGbase
   Variation registry for  Nemo deficiency


IKBKGbase mutation publications

[2011] [2010] [2009] [2008] [2007] [2006] [2005] [2004] [2002] [2001] [2000]

Search PubMed latest citations for IKBKG mutations

    2011

  • Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene.
    Fryssira H, Kakourou T, Valari M, Stefanaki K, Amenta S, Kanavakis E
    Acta Paediatr 2011(1): 128-33 [PubMed abstract].

    2010

  • NEMO gene mutations in Chinese patients with incontinentia pigmenti.
    Hsiao PF, Lin SP, Chiang SS, Wu YH, Chen HC, Lin YC
    J Formos Med Assoc 2010(3): 192-200 [PubMed abstract].

    2009

  • Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.
    Permaul P, Narla A, Hornick JL, Pai SY
    Immunol Res 2009(1-3): 89-98 [PubMed abstract].

  • Mutation analysis in primary immunodeficiency diseases: case studies.
    Hsu AP, Fleisher TA, Niemela JE
    Curr Opin Allergy Clin Immunol 2009(6): 517-24 [PubMed abstract].

    2008

  • X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.
    Mancini AJ, Lawley LP, Uzel G
    Arch Dermatol 2008(3): 342-6 [PubMed abstract].

  • IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.
    Salt BH, Niemela JE, Pandey R, Hanson EP, Deering RP, Quinones R, Jain A, Orange JS, Gelfand EW
    J Allergy Clin Immunol 2008(4): 976-82 [PubMed abstract].

  • A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway.
    Chang TT, Behshad R, Brodell RT, Gilliam AC
    J Am Acad Dermatol 2008(2): 316-20 [PubMed abstract].

  • A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
    Lopez-Granados E, Keenan JE, Kinney MC, Leo H, Jain N, Ma CA, Quinones R, Gelfand EW, Jain A
    Hum Mutat 2008(6): 861-8 [PubMed abstract].

  • A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation.
    Loh NR, Jadresic LP, Whitelaw A
    Acta Paediatr 2008(3): 379-81 [PubMed abstract].

    2007

  • IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
    Ku CL, Picard C, Erdös M, Jeurissen A, Bustamante J, Puel A, von Bernuth H, Filipe-Santos O, Chang HH, Lawrence T, Raes M, Maródi L, Bossuyt X, Casanova JL
    J Med Genet 2007(1): 16-23 [PubMed abstract].

  • Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients.
    Zou CC, Zhao ZY
    Int J Dermatol 2007(10): 1017-22 [PubMed abstract].

  • Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.
    Sebban-Benin H, Pescatore A, Fusco F, Pascuale V, Gautheron J, Yamaoka S, Moncla A, Ursini MV, Courtois G
    Hum Mol Genet 2007(23): 2805-15 [PubMed abstract].

  • Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene.
    Has C, Danescu S, Volz A, Nöh F, Technau K, Bruckner-Tuderman L
    Br J Dermatol 2007(2): 392-3 [PubMed abstract].

  • Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen.
    Tono C, Takahashi Y, Terui K, Sasaki S, Kamio T, Tandai S, Sato T, Kudo K, Toki T, Tachibana N, Yoshioka T, Nakahata T, Morio T, Nishikomori R, Ito E
    Bone Marrow Transplant 2007(12): 801-4 [PubMed abstract].

    2006

  • X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
    Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL
    J Exp Med 2006(7): 1745-59 [PubMed abstract].

  • Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.
    Ørstavik KH, Kristiansen M, Knudsen GP, Storhaug K, Vege A, Eiklid K, Abrahamsen TG, Smahi A, Steen-Johnsen J
    Am J Med Genet A 2006(1): 31-9 [PubMed abstract].

  • Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation.
    Pachlopnik Schmid JM, Junge SA, Hossle JP, Schneider EM, Roosnek E, Seger RA, Gungor T
    Pediatrics 2006(5): e1049-56 [PubMed abstract].

    2005

  • A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
    Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N
    Hum Genet 2005(3-4): 458-65 [PubMed abstract].

  • NEMO mutations in 2 unrelated boys with severe infections and conical teeth.
    Ku CL, Dupuis-Girod S, Dittrich AM, Bustamante J, Santos OF, Schulze I, Bertrand Y, Couly G, Bodemer C, Bossuyt X, Picard C, Casanova JL
    Pediatrics 2005(5): e615-9 [PubMed abstract].

    2004

  • X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.
    Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, Yachie A, Yasumi T, Kusunoki T, Heike T, Nakahata T
    Blood 2004(12): 4565-72 [PubMed abstract].

  • The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.
    Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA
    J Allergy Clin Immunol 2004(4): 725-33 [PubMed abstract].

  • Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
    Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, Lainka E, Dirksen U, Schroten H, Döffinger R, Casanova JL, Wahn V
    J Allergy Clin Immunol 2004(6): 1456-62 [PubMed abstract].

  • Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
    Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV
    Hum Mol Genet 2004(16): 1763-73 [PubMed abstract].

    2002

  • Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
    Orange JS, Brodeur SR, Jain A, Bonilla FA, Schneider LC, Kretschmer R, Nurko S, Rasmussen WL, Köhler JR, Gellis SE, Ferguson BM, Strominger JL, Zonana J, Ramesh N, Ballas ZK, Geha RS
    J Clin Invest 2002(11): 1501-9 [PubMed abstract].

    2001

  • Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
    Kosaki K, Shimasaki N, Fukushima H, Hara M, Ogata T, Matsuo N
    Am J Hum Genet 2001(3): 664-6 [PubMed abstract].

  • Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).
    Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israël A, Nelson DL
    Am J Hum Genet 2001(3): 765-71 [PubMed abstract].

  • Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.
    Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA
    Am J Med Genet 2001(2): 172-7 [PubMed abstract].

  • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
    Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL
    Nat Genet 2001(3): 277-85 [PubMed abstract].

  • Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.
    Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W
    Nat Immunol 2001(3): 223-8 [PubMed abstract].

    2000

  • A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
    Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM
    Am J Hum Genet 2000(6): 1555-62 [PubMed abstract].