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- W2170879723 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." @default.
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- W2170879723 date "2003-04-01" @default.
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- W2170879723 title "Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO" @default.
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- W2170879723 doi "https://doi.org/10.1136/adc.88.4.340" @default.
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