NDLI: Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations

Content Provider	PubMed Central
Author	Orange, Jordan S. Brodeur, Scott R. Jain, Ashish Bonilla, Francisco A. Schneider, Lynda C. Kretschmer, Roberto Samuel, Nurko Rasmussen, Wendy L. Köhler, Julia R. Gellis, Stephen E. Ferguson, Betsy M. Strominger, Jack L. Jonathan, Zonana Ramesh, Narayanaswamy Ballas, Zuhair K. Geha, Raif S.
Copyright Year	2002
Abstract	NF-κB essential modifier (NEMO), also known as IKK-γ, is a member of the I-κB kinase complex responsible for phosphorylating I-κB, allowing the release and activation of NF-κB. 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, with deficits in both T and B cell responses. We evaluated three patients with NEMO mutations (L153R, Q403X, and C417R) and HED-ID who had evidence of defective CD40 signaling. All three patients had normal percentages of peripheral blood NK cells, but impaired NK cell cytotoxic activity. This was not due to a generalized defect in cytotoxicity because antibody-dependent cellular cytotoxicity was intact. This abnormality was partially reversed by in vitro addition of IL-2, which was also able to induce NF-κB activation. In one patient with recurrent cytomegalovirus infections, administration of IL-2 partially corrected the NK cell killing deficit. These data suggest that NEMO participates in signaling pathways leading to NK cell cytotoxicity and that IL-2 can activate NF-κB and partially overcome the NK cell defect in patients with NEMO mutations.
Related Links	http://dx.doi.org/10.1172/jci0214858
Ending Page	1509
Page Count	9
Starting Page	1501
File Format	PDF
ISSN	00219738
e-ISSN	15588238
Journal	The Journal of Clinical Investigation
Issue Number	11
Volume Number	109
Language	English
Publisher	American Society for Clinical Investigation
Publisher Date	2002-06-01
Access Restriction	Open
Rights Holder	American Society for Clinical Investigation
Subject Keyword	Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Medicine

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