Article
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
The Journal of clinical investigation - 1 Jun 2002
Orange Jordan S, Brodeur Scott R, Jain Ashish, Bonilla Francisco A, Schneider Lynda C, Kretschmer Roberto, Nurko Samuel, Rasmussen Wendy L, Köhler Julia R, Gellis Stephen E, Ferguson Betsy M, Strominger Jack L, Zonana Jonathan, Ramesh Narayanaswamy, Ballas Zuhair K, Geha Raif S
Abstract excerpt
NF-kappaB essential modifier (NEMO), also known as IKK-gamma, is a member of the I-kappaB kinase complex responsible for phosphorylating I-kappaB, allowing the release and activation of NF-kappaB. Boys with an expressed NEMO mutation have an X-linked syndrome characterized by hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID). The immunophenotype resulting from NEMO mutation is highly variable,...
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