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.
Anhidrotic ectodermal dysplasia with T cell deficiency
- Defects of innate immune system, receptors and signaling components
Phenotypically related immunodeficiencies
Incidence is not known.