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 journalArticle

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 languageEnglish
Pages (from-to)1363-1366
Number of pages4
JournalBritish Journal of Haematology
Volume102
Issue number5
Publication statusPublished - 1998

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Keywords

  • Bone marrow transplantation
  • Cytokine signalling
  • JAK3
  • Mutation
  • Severe combined immune deficiency

ASJC Scopus subject areas

  • Hematology

Cite this

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.