X-linked severe combined immunodeficiency.
Between a third and half of all males with SCID and no family history of immunodeficiency represent the first manifestation in their family of a new mutation of the gene that causes X-linked SCID. These patients, like boys with a positive family history of X-linked SCID, have markedly reduced numbers of T cells, elevated numbers of B cells, and hypogammaglobulinemia. The hypogammaglobulinemia is due, at least in part, to the expression of the gene defect in B cells as well as in T cells. Patients with X-linked SCID who are treated with bone marrow transplant tend to engraft T cells readily but they do not engraft B cells unless they are treated with cytoreductive therapy prior to transplant. B-cell function after transplant tends to be poor, even in patients who have received transplants from HLA matched siblings. Better transplant strategies are required to achieve optimum long-term results in patients with X-linked SCID.
Department of Pediatrics, University of Tennessee College of Medicine, Memphis.
M E
ME
Conley
D016026:Bone Marrow Transplantation; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D014960:X Chromosome