We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
- Authors
BOZZI, F.; LEFRANC, G.; VILLA, A.; BADOLATO, R.; SCHUMACHER, R. F.; KHALIL, G.; LOISELET, J.; BRESCIANI, S.; O'SHEA, J. J.; VEZZONI, P.; NOTARANGELO, L. D.; CANDOTTI*, F.
- 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 (γc) or of γc-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 γc-JAK3 signalling pathway is not strictly required for immunoglobulin production.
- Subjects
IMMUNODEFICIENCY; BONE marrow transplantation; IMMUNITY; IMMUNE system; TRANSPLANTATION of organs, tissues, etc.
- Publication
British Journal of Haematology, 1998, Vol 102, Issue 5, p1363
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/j.1365-2141.1998.tb08990.x