Article
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 - 1 Sept 1998
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
Abstract excerpt
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...
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