| http://purl.uniprot.org/citations/11242109 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11242109 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11242109 | http://www.w3.org/2000/01/rdf-schema#comment | "The molecular basis of X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) has remained elusive. Here we report hypomorphic mutations in the gene IKBKG in 12 males with EDA-ID from 8 kindreds, and 2 patients with a related and hitherto unrecognized syndrome of EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). Mutations in the coding region of IKBKG are associated with EDA-ID, and stop codon mutations, with OL-EDA-ID. IKBKG encodes NEMO, the regulatory subunit of the IKK (IkappaB kinase) complex, which is essential for NF-kappaB signaling. Germline loss-of-function mutations in IKBKG are lethal in male fetuses. We show that IKBKG mutations causing OL-EDA-ID and EDA-ID impair but do not abolish NF-kappaB signaling. We also show that the ectodysplasin receptor, DL, triggers NF-kappaB through the NEMO protein, indicating that EDA results from impaired NF-kappaB signaling. Finally, we show that abnormal immunity in OL-EDA-ID patients results from impaired cell responses to lipopolysaccharide, interleukin (IL)-1beta, IL-18, TNFalpha and CD154. We thus report for the first time that impaired but not abolished NF-kappaB signaling in humans results in two related syndromes that associate specific developmental and immunological defects."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.org/dc/terms/identifier | "doi:10.1038/85837"xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.org/dc/terms/identifier | "doi:10.1038/85837"xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Courtois G."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Courtois G."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Shapiro R."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Shapiro R."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Holland S.M."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Holland S.M."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Overbeek P.A."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Overbeek P.A."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Bessia C."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Bessia C."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Bodemer C."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Bodemer C."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Headon D.J."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Headon D.J."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Smahi A."xsd:string |
| http://purl.uniprot.org/citations/11242109 | http://purl.uniprot.org/core/author | "Smahi A."xsd:string |