ectodermal dysplasia anhidrotic with immunodeficiency X-linked

ectodermal dysplasia anhidrotic with immunodeficiency X-linked

A form (OMIM:300291) of ectoderma dysplasia, a heterogeneous group of disorders defined as the abnormal development of two or more ectodermal structures. EDAID is characterised by absent sweat glands; sparse scalp hair; rare, cone-shaped teeth; and immune defects resulting in severe infections.

Molecular pathology
EDAID is caused by a mutation of IKBKG on chromosome Xq28, which encodes a regulatory subunit of the inhibitor of the IKK complex that activates NF-κB, upregulating genes involved in inflammation, immunity, cell survival and other pathways.