Long-term Clinical Outcome of Patients with Severe Combined Immunodeficiency Who Received Related Donor Bone Marrow Transplants without Pretransplant Chemotherapy or Post-transplant GVHD Prophylaxis

• Published in: The Journal of pediatrics 2009-12, Vol.155 (6), p.834-840.e1
• Main Authors: Railey, Mary Dell, MD, Lokhnygina, Yuliya, PhD, Buckley, Rebecca H., MD
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age Factors; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Bone Marrow Transplantation; Bone marrow, stem cells transplantation. Graft versus host reaction; Child; Child, Preschool; Cohort Studies; Female; General aspects; Graft vs Host Disease - prevention & control; Health Status; Humans; Infant; Male; Medical sciences; Pediatrics; Prevention and actions; Public health. Hygiene; Public health. Hygiene-occupational medicine; Severe Combined Immunodeficiency - genetics; Severe Combined Immunodeficiency - mortality; Severe Combined Immunodeficiency - surgery; Survival Rate; Transfusions. Complications. Transfusion reactions. Cell and gene therapy; Transplantation Conditioning; Treatment Outcome; Young Adult
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2009.07.049

Objective To determine long-term health benefits of nonablative bone marrow transplantation for severe combined immunodeficiency (SCID), we investigated our cohort of 161 related donor bone marrow–transplanted patients with SCID. Only 16 (10%) had HLA-identical donors. Study design All 124 survivors were sent questionnaires about their current clinical statuses. Details from clinic visits were also compiled. One hundred eleven patients (90%) were reached. We compared outcomes of patients transplanted before and after 3.5 months of life and by molecular defect. Results The overall survival rate was 77%, but the rate for the 48 infants transplanted in the first 3.5 months of life was 94%, compared with 70% for the 113 transplanted after 3.5 months ( P = .002). Twenty-eight (76%) of the 37 deceased patients died of viral infections present at diagnosis. One or more clinical problems were reported to have been present in the past 2 years in 71 (64%) of the survivors, although 95 (86%) were considered healthy by their families. Conclusions Most patients with SCID transplanted with related donor marrow without pretransplant chemotherapy have done well in the long term, but those transplanted at