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autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency

MIM.164008 14q13

Thursday 26 January 2006

Synopsis

- chronic diarrhea
- recurrent bronchopneumonitis
- hepatosplenomegaly
- failure to thrive
- Gram-positive and Gram-negative pyogenic bacteria infections
- dry skin, rough skin
- sparse scalp hair
- conical teeth

Etiology

- germline mutations in gene NFKBIA (MIM.164008) at 14q13

Refererences

- 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

- Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. PMID: 12351572