| http://purl.uniprot.org/citations/11047757 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11047757 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11047757 | http://www.w3.org/2000/01/rdf-schema#comment | "Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist. We have studied males from four families with HED and immunodeficiency (HED-ID), in which the disorder segregates as an X-linked recessive trait. Affected males manifest dysgammaglobulinemia and, despite therapy, have significant morbidity and mortality from recurrent infections. Recently, mutations in IKK-gamma (NEMO) have been shown to cause familial incontinentia pigmenti (IP). Unlike HED-ID, IP affects females and, with few exceptions, causes male prenatal lethality. IKK-gamma is required for the activation of the transcription factor known as "nuclear factor kappa B" and plays an important role in T and B cell function. We hypothesize that "milder" mutations at this locus may cause HED-ID. In all four families, sequence analysis reveals exon 10 mutations affecting the carboxy-terminal end of the IKK-gamma protein, a domain believed to connect the IKK signalsome complex to upstream activators. The findings define a new X-linked recessive immunodeficiency syndrome, distinct from other types of HED and immunodeficiency syndromes. The data provide further evidence that the development of ectodermal appendages is mediated through a tumor necrosis factor/tumor necrosis factor receptor-like signaling pathway, with the IKK signalsome complex playing a significant role."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.org/dc/terms/identifier | "doi:10.1086/316914"xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.org/dc/terms/identifier | "doi:10.1086/316914"xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Moss C."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Moss C."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Shapira S.K."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Shapira S.K."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Emmal S.A."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Emmal S.A."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Zonana J."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Zonana J."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Ferguson B.M."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Ferguson B.M."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Orlow S.J."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Orlow S.J."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Golabi M."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Golabi M."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Elder M.E."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Elder M.E."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Schneider L.C."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Schneider L.C."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Farndon P.A."xsd:string |
| http://purl.uniprot.org/citations/11047757 | http://purl.uniprot.org/core/author | "Farndon P.A."xsd:string |