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

Open Access
Publisher Website
Google Scholar
Abstract
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.