| http://purl.uniprot.org/citations/11224521 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11224521 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11224521 | http://www.w3.org/2000/01/rdf-schema#comment | "The gene that encodes nuclear factor kappaB (NF-kappaB) essential modulator (or NEMO, also known as IKKgamma) is required for activation of the transcription factor NF-kappaB. We describe mutations in the putative zinc-finger domain of NEMO that result in an X-linked primary immunodeficiency characterized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED). These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. Nevertheless, innate immunity is preserved in XHM-ED patients because APCs retain the capacity to respond to stimulation by lipopolysaccharide or Staphylococcus aureus Cowan's antigen (SAC). Overall, the phenotype observed in XHM-ED patients shows that the putative zinc-finger domain of NEMO has a regulatory function and demonstrates the definite requirement of CD40-mediated NF-kappaB activation for B cell immunoglobulin class-switching."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.org/dc/terms/identifier | "doi:10.1038/85277"xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.org/dc/terms/identifier | "doi:10.1038/85277"xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Brown M."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Brown M."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Liu S."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Liu S."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Jain A."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Jain A."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Cohen J."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Cohen J."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Ma C.A."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Ma C.A."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Strober W."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/author | "Strober W."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/name | "Nat. Immunol."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/name | "Nat. Immunol."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/pages | "223-228"xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/pages | "223-228"xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/title | "Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia."xsd:string |
| http://purl.uniprot.org/citations/11224521 | http://purl.uniprot.org/core/title | "Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia."xsd:string |