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 |
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Pages (from-to) | 1363-1366 |
Number of pages | 4 |
Journal | British Journal of Haematology |
Volume | 102 |
Issue number | 5 |
Publication status | Published - 1998 |
Keywords
- Bone marrow transplantation
- Cytokine signalling
- JAK3
- Mutation
- Severe combined immune deficiency
ASJC Scopus subject areas
- Hematology