| First Author | Leonard WJ | Year | 1996 |
| Journal | J Investig Med | Volume | 44 |
| Issue | 6 | Pages | 304-11 |
| PubMed ID | 8795294 | Mgi Jnum | J:35703 |
| Mgi Id | MGI:83151 | Citation | Leonard WJ (1996) Dysfunctional cytokine receptor signaling in severe combined immunodeficiency. J Investig Med 44(6):304-11 |
| abstractText | I have reviewed the data demonstrating that XSCID results from mutations in gamma c and that an autosomal recessive form of SCID results from mutations in Jak3, a kinase that interacts with gamma c and is responsible for transducing gamma c-dependent signals. These findings underscore the dysfunctional cytokine receptor signaling that occurs in at least two forms of SCID. Features of the biology of Jak-STAT pathways have been discussed, as have the potential roles of overactive Jak-STAT pathways in cellular transformation. Implicit in these findings are the exciting possibilities of gene therapy for XSCID and Jak3-deficient SCID, as well as the possibility that new immunosuppressive drugs might be based on the ability to disrupt Jak-STAT pathways. |
