Article
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Nature genetics - 1 Mar 2001
Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia S H, Headon D J, Overbeek P A, Le Deist F, Holland S M, Belani K, Kumararatne D S, Fischer A, Shapiro R, Conley M E, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova J L
Abstract excerpt
The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). Mutations in the coding region of IKBKG are associated with EDA-ID,...
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