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#