Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
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...
Paper Details
Title
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
Published Date
Apr 1, 2003
Volume
88
Issue
4
Pages
340 - 341
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