Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myeloablation and immunosuppression with busulfan and cyclophosphamide.
Three patients with Wiskott-Aldrich syndrome received transplants of marrow from their HLA-A, B, C, D identical siblings after myeloablation with busulfan, 2 mg/kg/day x 4 days, followed by immunosuppression with cyclophosphamide, 50 mg/kg/day x 4. Sustained engraftment of lymphoid and hematopoietic elements was documented in each case. Platelet counts in excess of 100,000/cu mm were restored 20--50 days posttransplant and remain in the normal range 6--12 mo later. Platelets exhibit normal size and in vitro aggregation. The patients produce isoagglutinins and antibodies to other polysaccharides. The use of busulfan in moderate dosages as a myeloablative agent, coupled with cyclophosphamide, may offer an improved alternative to the use of lethal total body irradiation as a preparative regimen for complete correction of Wiskott-Aldrich syndrome by marrow transplantation.
D016026:Bone Marrow Transplantation; D002066:Busulfan / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002901:Chromosomes, Human, 13-15; D003520:Cyclophosphamide / Q000627:therapeutic use; D004406:Dysgammaglobulinemia / Q000276:immunology; D006410:Hematopoiesis; D006801:Humans; D007075:Immunoglobulin M / Q000172:deficiency; D007166:Immunosuppressive Agents; D008297:Male; D008533:Megakaryocytes / Q000166:cytology*; D013921:Thrombocytopenia / Q000150:complications; D014923:Wiskott-Aldrich Syndrome / Q000188:drug therapy / Q000276:immunology*
D007075:Immunoglobulin M; D007166:Immunosuppressive Agents; D003520:Cyclophosphamide; D002066:Busulfan