| http://purl.uniprot.org/citations/12045264 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12045264 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12045264 | http://www.w3.org/2000/01/rdf-schema#comment | "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, 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-kappaB 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-kappaB and partially overcome the NK cell defect in patients with NEMO mutations."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci14858"xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci14858"xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Jain A."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Jain A."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Strominger J.L."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Strominger J.L."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Orange J.S."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Orange J.S."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Geha R.S."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Geha R.S."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Ramesh N."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Ramesh N."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Koehler J.R."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Koehler J.R."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Zonana J."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Zonana J."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Ferguson B.M."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Ferguson B.M."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Schneider L.C."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Schneider L.C."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Ballas Z.K."xsd:string |
| http://purl.uniprot.org/citations/12045264 | http://purl.uniprot.org/core/author | "Ballas Z.K."xsd:string |