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| The molecular basis of X-linked severe combined immunodeficiency: Defective cytokine receptor signaling |
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| Author(s): Leonard WJ |
| Source: ANNUAL REVIEW OF MEDICINE Volume: 47 Pages: 229-239 Published: 1996 |
| Times Cited: 107 References: 52 |
| Abstract: X-linked severe combined immunodeficiency (XSCID) is an inherited disease characterized by profoundly diminished cell-mediated and humoral immunity. XSCID was found to result from mutations in the interleukin-2 (IL-2) receptor gamma chain. Knowledge of the genetic defect has important implications for prenatal and postnatal diagnosis, carrier female identification, and the possibility of gene therapy. The fact that the phenotype and clinical manifestations in XSCID are more severe than the abnormalities found in humans or mice deficient in IL-2 led to the speculation and subsequent confirmation that the IL-2 receptor is not the only receptor to contain the gamma-chain. Instead, the gamma chain is also a component of the receptors for IL-4, IL-7, IL-9, and IL-15 and is now denoted as the common cytokine receptor gamma chain, gamma(c). The role of gamma(c) in signaling and lymphoid development and the implications of a shared receptor component are discussed. |
| Document Type: Review |
| Language: English |
| Reprint Address: Leonard, WJ (reprint author), NHLBI, LAB MOLEC IMMUNOL, NIH, BETHESDA, MD 20892 USA |
| Publisher: ANNUAL REVIEWS INC, 4139 EL CAMINO WAY, PO BOX 10139, PALO ALTO, CA 94303-0139 |
| Subject Category: Medicine, General & Internal |
| IDS Number: UE597 |
| ISSN: 0066-4219 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |