Anhidrotic ectodermal dysplasia with immune deficiency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function ...1

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Genetics of Anhidrotic ectodermal dysplasia with immune deficiency

Genetic Changes: Mutations in the IKBKG gene cause X-linked recessive EDA-ID, and mutations in the NFKBIA gene cause autosomal dominant EDA-ID. The proteins produced from these two genes regulate nuclear factor-kappa-B. Nuclear factor-kappa-B ...2

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Causes

See also causal information:

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ anhidrotic-ectodermal-dysplasia-with-immune-deficiency
  2. ibid.

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