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Case Reports
. 1998 Sep;102(5):1363-6.
doi: 10.1111/j.1365-2141.1998.tb08990.x.

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  1 , 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
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Case Reports

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 et al. Br J Haematol. 1998 Sep.

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 (gammac) or of gammac-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 gammac-JAK3 signalling pathway is not strictly required for immunoglobulin production.

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