Dysfunctional cytokine receptor signaling in severe combined immunodeficiency

J Investig Med. 1996 Aug;44(6):304-11.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Humans
  • Point Mutation
  • Receptors, Cytokine / genetics*
  • Receptors, Cytokine / physiology
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • Severe Combined Immunodeficiency / physiopathology
  • Signal Transduction*


  • Receptors, Cytokine