Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment

Br J Haematol. 1998 Sep;102(5):1363-6. doi: 10.1111/j.1365-2141.1998.tb08990.x.

Abstract

Severe combined immunodeficiency (SCID) comprises a heterogenous group of disorders that are fatal unless treated by bone marrow transplantation (BMT). The most common form of SCID (T-B+ SCID) is due to mutations of either the common gamma chain (gammac) or of gammac-coupled JAK3 kinase. We report an unusual JAK3 defect in a female who was successfully treated > 20 years ago with a BMT using her HLA-identical father as the donor. Persistence of genetically and biochemically defective autologous B cells, associated with reconstitution of cellular and humoral immunity, suggests that integrity of the gammac-JAK3 signalling pathway is not strictly required for immunoglobulin production.

Publication types

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

MeSH terms

  • B-Lymphocytes / pathology
  • Blotting, Western
  • Bone Marrow Transplantation / methods
  • Female
  • Gene Deletion
  • Humans
  • Janus Kinase 3
  • Mutation*
  • Phosphorylation
  • Protein-Tyrosine Kinases / deficiency*
  • Protein-Tyrosine Kinases / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / metabolism
  • Severe Combined Immunodeficiency / therapy
  • T-Lymphocytes / pathology

Substances

  • Protein-Tyrosine Kinases
  • JAK3 protein, human
  • Janus Kinase 3

Grants and funding