- databases for immunodeficiency-causing variations

   Variation registry for  Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency

NFKBIAbase mutation publications

[2008] [2003]

Search PubMed latest citations for NFKBIA mutations


  • 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 hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
    Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israël A, Munnich A, Le Deist F, Casanova JL
    J Clin Invest 2003(7): 1108-15 [PubMed abstract].