Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
case_report · Level V
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- Record sourced from PubMed, PMID 12651765.
- Also identified by PMC identifier 1719512.
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Abstract
Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an important role in human development, skin homoeostasis, and immunity.
Medical subject headings
- Ectodermal Dysplasia
- Immunologic Deficiency Syndromes
- Mutation
- Protein Serine-Threonine Kinases