| pubmed-article:7679206 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7679206 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:7679206 | lifeskim:mentions | umls-concept:C0167627 | lld:lifeskim |
| pubmed-article:7679206 | lifeskim:mentions | umls-concept:C0398689 | lld:lifeskim |
| pubmed-article:7679206 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:7679206 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
| pubmed-article:7679206 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
| pubmed-article:7679206 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
| pubmed-article:7679206 | pubmed:issue | 6412 | lld:pubmed |
| pubmed-article:7679206 | pubmed:dateCreated | 1993-3-11 | lld:pubmed |
| pubmed-article:7679206 | pubmed:abstractText | X chromosome-linked immunodeficiency with hyper-IgM (HIGM1, MIM number 308230) is a rare disorder characterized by recurrent bacterial infections, very low or absent IgG, IgA and IgE, and normal to increased IgM and IgD serum levels. HIGM1 has been suggested to result from ineffective T-cell help for B cells. We and others have identified a novel, TNF-related activation protein (TRAP) that is exclusively expressed on the surface of stimulated T cells. TRAP, a type II transmembrane protein of M(r) 33,000, is the physiological ligand for CD40 (refs 5-8). Crosslinking of CD40 on B cells induces, in the presence of lymphokines, immunoglobulin class switching from IgM to IgG, IgA or IgE. Mapping of the TRAP gene to the X-chromosomal location q26.3-q27.1 (ref. 6) suggested a causal relationship to HIGM1, which had previously been assigned to Xq26 (refs 12-14). Here we present evidence that point mutations in the TRAP gene give rise to nonfunctional or defective expression of TRAP on the surface of T cells in patients with HIGM1. The resultant failure of TRAP to interact with CD40 on functionally intact B cells is responsible for the observed immunoglobulin isotype defect in HIGM1. | lld:pubmed |
| pubmed-article:7679206 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7679206 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7679206 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7679206 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:7679206 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7679206 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:7679206 | pubmed:issn | 0028-0836 | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:UgazioA GAG | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:LevinskyR JRJ | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:GramCC | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:MalcolmSS | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:KroczekR ARA | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:MagesH WHW | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:KorthäuerUU | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:NotarangeloL... | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:BrièreFF | lld:pubmed |
| pubmed-article:7679206 | pubmed:author | pubmed-author:PadayacheeMM | lld:pubmed |
| pubmed-article:7679206 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7679206 | pubmed:day | 11 | lld:pubmed |
| pubmed-article:7679206 | pubmed:volume | 361 | lld:pubmed |
| pubmed-article:7679206 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7679206 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7679206 | pubmed:pagination | 539-41 | lld:pubmed |
| pubmed-article:7679206 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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| pubmed-article:7679206 | pubmed:year | 1993 | lld:pubmed |
| pubmed-article:7679206 | pubmed:articleTitle | Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. | lld:pubmed |
| pubmed-article:7679206 | pubmed:affiliation | Max-Planck-Gesellschaft, Arbeitsgruppe Immunologie, Universität Erlangen, Germany. | lld:pubmed |
| pubmed-article:7679206 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7679206 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:959 | entrezgene:pubmed | pubmed-article:7679206 | lld:entrezgene |
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