Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by mutations in NEMO/IKKgamma, the regulatory subunit of the IkB kinase complex. Autosomal-dominant form of EDA-ID is associated with a mutation in NFKBIA. The disease is characterised by severe bacterial infections and a severe and unique T -cell deficiency. There is a marked lymphocytosis, no detectable memory T cells in vivo, and naive T cells do not respond to CD3-TCR activation in vitro.

Alternative names


Anhidrotic ectodermal dysplasia with T cell deficiency


  • Defects of innate immune system, receptors and signaling components


Autosomal dominant


#129490 Ectodermal dysplasia 3, anhidrotic; ED3

*164008 Nuclear factor of kappa light chain gene enhancer in B cells inhibitor, alpha; NFKBIA

#300291 Ectodermal dysplasia, hypohidrotic, with immune deficiency


Incidence is not known.