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Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment
Author(s) -
Bozzi F.,
Lefranc G.,
Badolato R.,
Schumacher R. F.,
Khalil G.,
Loiselet J.,
Bresciani S.,
O'Shea J. J.,
Vezzoni P.,
Notarangelo L. D.,
Candotti F.
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1998.tb08990.x
Subject(s) - severe combined immunodeficiency , immunodeficiency , immunology , bone marrow , immune system , primary immunodeficiency , transplantation , human leukocyte antigen , janus kinase 3 , biology , medicine , cancer research , antigen , genetics , t cell , gene , antigen presenting cell
Summary. 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.