Allogeneic Haematopoietic Stem Cell Transplantation as Therapy for Chronic Granulomatous Disease—Single Centre Experience

• DOI: 10.1007/s10875-011-9513-y
• Publication Date: 2011-03-08T11:51:34Z
• Authors: Jolanta Goździk; Anna Pituch-Nowor...; Szymon Skoczeń; Wojciech Czogała; Jarosław Baran; Aleksandra Krasow...; Oktawiusz Wiecha; Marek Zembala
• Keywords: Male; Adolescent; haematopoietic stem cell transplantation; Immunology; Graft vs Host Disease; chronic granulomatous disease; immunological deficiency; Granulomatous Disease, Chronic; Article; Disease-Free Survival; 03 medical and health sciences; 0302 clinical medicine; children; Antigens, CD; HLA Antigens; Risk Factors; Immunology and Allergy; Humans; Child; Busulfan; Cyclophosphamide; Transplantation Chimera; Graft Survival; Hematopoietic Stem Cell Transplantation; Infant; Myeloablative Agonists; 3. Good health; Child, Preschool; Cyclosporine; Female

Chronic granulomatous disease (CGD) is phagocytic cell metabolic disorder resulting in recurrent infections and granuloma formation. This paper reports the favourable outcome of allogeneic transplantation in six high-risk CGD patients. The following donors were used: HLA-matched, related (two) and unrelated (three), and HLA-mismatched, unrelated (one). One patient was transplanted twice using the same sibling donor because of graft rejection at 6 months after reduced-intensity conditioning transplant (fludarabine and melphalan). Myeloablative conditioning regimen consisted of busulphan and cyclophosphamide. Stem cell source was unmanipulated bone marrow containing: 5.2 (2.6-6.5) × 10(8) nucleated cells, 3.8 (2.0-8.0) × 10(6) CD34+ cells and 45 (27-64) × 10(6) CD3+ cells per kilogramme. Graft-versus-host disease prophylaxis consisted of cyclosporine A and, for unrelated donors, short course of methotrexate and anti-T-lymphocyte globulin. Mean neutrophile and platelet engraftments were observed at day 22 (20-23) and day 20 (16-29), respectively. Pre-existing infections and inflammatory granulomas resolved. With the follow-up of 4-35 months (mean, 20 months), all patients are alive and well with full donor chimerism and normalized superoxide production.