Last update 01 Nov 2024

Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency

Basic Info

Synonyms
Anhidrotic Ectodermal Dysplasia with Immune Deficiency, Anhidrotic ectodermal dysplasia with immune deficiency, Anhidrotic ectodermal dysplasia with immune deficiency (disorder)
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Introduction
A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or 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.

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