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

F. Bozzi; G. Lefranc; A. Villa; R. Badolato; R. F. Schumacher; G. Khalil; J. Loiselet; S. Bresciani; J. J. O'Shea; P. Vezzoni; L. D. Notarangelo; F. Candotti

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

F. Bozzi, G. Lefranc, A. Villa, R. Badolato, R. F. Schumacher, G. Khalil, J. Loiselet, S. Bresciani, J. J. O'Shea, P. Vezzoni, L. D. Notarangelo, F. Candotti

Research output: Contribution to journal › Article › peer-review

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

Keywords

Bone marrow transplantation
Cytokine signalling
JAK3
Mutation
Severe combined immune deficiency

ASJC Scopus subject areas

Hematology

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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.

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 › peer-review

Bozzi, F, Lefranc, G, Villa, A, Badolato, R, Schumacher, RF, Khalil, G, Loiselet, J, Bresciani, S, O'Shea, JJ, Vezzoni, P, Notarangelo, LD & 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, vol. 102, no. 5, pp. 1363-1366.

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. / Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation : Implications for treatment. In: British Journal of Haematology. 1998 ; Vol. 102, No. 5. pp. 1363-1366.

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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.",

keywords = "Bone marrow transplantation, Cytokine signalling, JAK3, Mutation, Severe combined immune deficiency",

author = "F. Bozzi and G. Lefranc and A. Villa and R. Badolato and Schumacher, {R. F.} and G. Khalil and J. Loiselet and S. Bresciani and O'Shea, {J. J.} and P. Vezzoni and Notarangelo, {L. D.} and F. Candotti",

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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.

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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

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