Ectodermal Dysplasia and Immunodeficiency 2

**Semantic type:** Disease or Syndrome

**Definition:** A rare disorder caused by mutations in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.

**Synonyms:** - Autosomal Dominant Anhidrotic Ectodermal Dysplasia - EDAID2 - Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2 - Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant - Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2