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.
| Original language | English |
|---|---|
| Pages (from-to) | 1363-1366 |
| Number of pages | 4 |
| Journal | British Journal of Haematology |
| Volume | 102 |
| Issue number | 5 |
| Publication status | Published - 1998 |
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Keywords
- Bone marrow transplantation
- Cytokine signalling
- JAK3
- Mutation
- Severe combined immune deficiency
ASJC Scopus subject areas
- Hematology
Cite this
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. (1998). Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: Implications for treatment. British Journal of Haematology, 102(5), 1363-1366.