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.
MeSH terms
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Child, Preschool
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Ectodermal Dysplasia / genetics*
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Ectodermal Dysplasia / therapy
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Follow-Up Studies
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Humans
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I-kappa B Kinase
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Immunoglobulins, Intravenous / therapeutic use
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Immunologic Deficiency Syndromes / genetics*
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Immunologic Deficiency Syndromes / therapy
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Male
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Mutation*
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Protein Serine-Threonine Kinases / genetics*
Substances
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Immunoglobulins, Intravenous
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Protein Serine-Threonine Kinases
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CHUK protein, human
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I-kappa B Kinase
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IKBKB protein, human
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IKBKE protein, human