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Lookup NU author(s): Professor Andrew GenneryORCiD,
Dr Terence Flood,
Dr Gavin Spickett,
Dr Mario Abinun
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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.
Author(s): Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M
Publication type: Article
Publication status: Published
Journal: Archives of Disease in Childhood
ISSN (print): 0003-9888
ISSN (electronic): 1468-2044
Publisher: BMJ Group
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