| http://purl.uniprot.org/citations/9399950 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9399950 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9399950 | http://www.w3.org/2000/01/rdf-schema#comment | "One of the most common human immunodeficiencies is an X-linked condition arising from mutations of the gamma subunit of the interleukin-2 receptor (IL-2Rgamma). The IL-2Rgamma protein is one chain of the heterotrimeric (alpha, beta, gamma) IL-2 receptor, but also participates in the formation of the IL-4, 7, 9, and 15 receptor complexes. The diagnosis of X-linked SCID is usually relatively simple due to the distinctive immunological presentation; IL-2Rgamma-deficient patients typically lacking mature T lymphocytes (T-B+). However, it is becoming clear that this merely represents one extreme of a potential range of clinical presentations. We describe here a novel mutation of the human IL-2Rgamma chain (R222C) resulting in an unusual immunological phenotype. Although clinically immunodeficient, this patient has normal numbers of peripheral T and B cells, responds normally to mitogenic stimuli, and unusually, has a normal thymus gland. This IL-2Rgamma mutation is distinctive in that the protein is sufficiently stable to be expressed at the cell surface. While the T cell receptor repertoire appears complete, suggesting normal T cell differentiation occurs, patient T cells demonstrate a reduced ability to bind IL-2 and this appears sufficient to cause a deficiency in their ability to participate in antigenic responses. Early clinical recognition of this phenotype is critical as a delay in diagnosis may result in a fatal infection."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci119858"xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci119858"xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/author | "Roifman C.M."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/author | "Roifman C.M."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/author | "Sharfe N."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/author | "Sharfe N."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/author | "Shahar M."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/author | "Shahar M."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/pages | "3036-3043"xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/pages | "3036-3043"xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/title | "An interleukin-2 receptor gamma chain mutation with normal thymus morphology."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/title | "An interleukin-2 receptor gamma chain mutation with normal thymus morphology."xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/volume | "100"xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://purl.uniprot.org/core/volume | "100"xsd:string |
| http://purl.uniprot.org/citations/9399950 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9399950 |
| http://purl.uniprot.org/citations/9399950 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9399950 |
| http://purl.uniprot.org/citations/9399950 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9399950 |
| http://purl.uniprot.org/citations/9399950 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9399950 |