Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.
HED-ID is caused by hypomorphic mutations in the coding region of the IKBKG (or NEMO) gene (Xq28) or, less often, mutations in the NFKBIA gene (14q13), both involved in NF-κB activation.
