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
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation : Implications for treatment. / 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.
In: British Journal of Haematology, Vol. 102, No. 5, 1998, p. 1363-1366.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation
T2 - Implications for treatment
AU - Bozzi, F.
AU - Lefranc, G.
AU - Villa, A.
AU - Badolato, R.
AU - Schumacher, R. F.
AU - Khalil, G.
AU - Loiselet, J.
AU - Bresciani, S.
AU - O'Shea, J. J.
AU - Vezzoni, P.
AU - Notarangelo, L. D.
AU - Candotti, F.
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
KW - Bone marrow transplantation
KW - Cytokine signalling
KW - JAK3
KW - Mutation
KW - Severe combined immune deficiency
UR - http://www.scopus.com/inward/record.url?scp=7344264624&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=7344264624&partnerID=8YFLogxK
M3 - Article
C2 - 9753072
AN - SCOPUS:7344264624
VL - 102
SP - 1363
EP - 1366
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 5
ER -