NFKBIA
MIM.164008 14q13
Pathology
germline mutations in autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency (MIM.164008)
See also
NFKBs and NFKBIs
Références
Courtois G, Smahi A, Reichenbach J, Doffinger 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, Israel A, Munnich A, Le Deist F, Casanova JL. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 2003 Oct;112(7):1108-15. PMID: #14523047#