| pubmed-article:8299698 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C0021756 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C0597357 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C0034819 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C0543687 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C1823153 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C1524075 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C0597358 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C2349976 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C1552644 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C1517945 | lld:lifeskim |
| pubmed-article:8299698 | lifeskim:mentions | umls-concept:C0337112 | lld:lifeskim |
| pubmed-article:8299698 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:8299698 | pubmed:dateCreated | 1994-3-9 | lld:pubmed |
| pubmed-article:8299698 | pubmed:abstractText | Interactions of interleukin-2 (IL-2) with its high-affinity, heterotrimeric receptor (IL-2R alpha beta gamma) play a pivotal role in the autocrine pathway of T lymphocyte expansion required in an immune response. Mutations in the IL-2R gamma chain-encoding gene have been found in SCIDX1, a primary immunodeficiency characterized by the absence of T cell and NK cell development. We have investigated six unrelated SCIDX1 patients for molecular abnormalities of the IL-2R gamma gene. A variety of defects were identified, including the absence of transcripts, frame-shift deletions and point mutations within canonical cytokine receptor motifs (conserved cysteines and the "WS" box). The ability of these mutated IL-2R gamma chains to participate in the function of a high-affinity IL-2R complex was examined by radiolabeled IL-2 binding studies using Epstein-Barr virus-transformed B lymphoblastoid cell lines (B-LCL) derived from SCIDX1 patients. Although normal control B-LCL express high-affinity IL-2 binding sites (Kd = 60 pM, 150 sites/cell), B-LCL derived from SCIDX1 patients failed to bind IL-2 under high-affinity conditions. These SCIDX1 mutations confirm the critical role of the IL-2R gamma chain in T cell and NK cell development. In addition, these data provide insight into the structure/function relationship of the IL-2R gamma chain by identifying residues required for the formation of a high-affinity IL-2R complex. | lld:pubmed |
| pubmed-article:8299698 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8299698 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8299698 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8299698 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8299698 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8299698 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8299698 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8299698 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:8299698 | pubmed:issn | 0014-2980 | lld:pubmed |
| pubmed-article:8299698 | pubmed:author | pubmed-author:FischerAA | lld:pubmed |
| pubmed-article:8299698 | pubmed:author | pubmed-author:Dautry-Varsat... | lld:pubmed |
| pubmed-article:8299698 | pubmed:author | pubmed-author:DiSantoJ PJP | lld:pubmed |
| pubmed-article:8299698 | pubmed:author | pubmed-author:de Saint... | lld:pubmed |
| pubmed-article:8299698 | pubmed:author | pubmed-author:CertainSS | lld:pubmed |
| pubmed-article:8299698 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8299698 | pubmed:volume | 24 | lld:pubmed |
| pubmed-article:8299698 | pubmed:geneSymbol | IL-2R&ggr; | lld:pubmed |
| pubmed-article:8299698 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8299698 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8299698 | pubmed:pagination | 475-9 | lld:pubmed |
| pubmed-article:8299698 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:meshHeading | pubmed-meshheading:8299698-... | lld:pubmed |
| pubmed-article:8299698 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8299698 | pubmed:articleTitle | Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. | lld:pubmed |
| pubmed-article:8299698 | pubmed:affiliation | INSERM U132, Hôpital Necker-Enfants Malades, Paris, France. | lld:pubmed |
| pubmed-article:8299698 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8299698 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:3561 | entrezgene:pubmed | pubmed-article:8299698 | lld:entrezgene |
| entrez-gene:16186 | entrezgene:pubmed | pubmed-article:8299698 | lld:entrezgene |
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