Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation

• Published in: Journal of allergy and clinical immunology Vol. 132; no. 5; pp. 1150 - 1155
• Main Authors: Cole, Theresa, BM, Pearce, Mark S., PhD, Cant, Andrew J., MD, Cale, Catherine M., PhD, Goldblatt, David, PhD, Gennery, Andrew R., MD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.11.2013; Elsevier; Elsevier Limited
• Subjects: Adolescent; Age; Allergy and Immunology; Biological and medical sciences; Child; Child, Preschool; children; Chronic granulomatous disease; Clinical outcomes; Female; Flow cytometry; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Gastroenterology; Gene therapy; Granulomatous Disease, Chronic - epidemiology; Granulomatous Disease, Chronic - therapy; Hematologic and hematopoietic diseases; hematopoietic stem cell transplant; Hematopoietic Stem Cell Transplantation; Hepatology; Hospitals; Humans; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunopathology; Infant; Infant, Newborn; Infections - etiology; Inflammatory bowel disease; Ireland; Male; Medical records; Medical research; Medical sciences; Morbidity; Mortality; Other diseases. Hematologic involvement in other diseases; Pediatrics; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Software; Studies; Surgery; Transplants & implants; Treatment Outcome; United Kingdom; United Kingdom; Ireland; United Kingdom > UK; CGD; Chronic granulomatous disease; World Health Organization; United Kingdom; AR; Body mass index; Autosomal recessive; children; UK; HSCT; hematopoietic stem cell transplant; BMI; WHO; Human; Immunopathology; Prognosis; Stem cell; Hematopoietic cell; Hemopathy; Immune deficiency; Genetic disease; Immunology; Evolution; Child; Leukocyte disease; Hematopoietic stem cell transplantation; Hematopoietic stem cell transplant
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/j.jaci.2013.05.031

Background Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by serious infections and inflammation. It can be managed conservatively with prophylactic antimicrobial agents or curatively with hematopoietic stem cell transplantation (HSCT). In the United Kingdom and Ireland there are cohorts of children managed both conservatively and curatively. Objectives This study aimed to compare clinical outcomes (mortality and morbidity) in children managed conservatively and curatively. Methods Children were identified from specialist centers and advertising through special interest groups. Clinical data were collected from medical records regarding infections, inflammatory complications and growth, other admissions, and curative treatment. Comparisons were made for patients not undergoing HSCT and patients after HSCT. Results Seventy-three living children were identified, 59 (80%) of whom were recruited. Five deceased children were also identified. Clinical information was available for 62 children (4 deceased). Thirty (48%) children had undergone HSCT. Children who did not undergo transplantation had 0.71 episodes of infection/admission/surgery per CGD life year (95% CI, 0.69-0.75 events per year). Post-HSCT children had 0.15 episodes of infection/admission/surgery per transplant year (95% CI, 0.09-0.21 events per year). The mean z score for height and body mass index (BMI) for age was significantly better in post-HSCT children. Survival in the non-HSCT group was 90% at age 15 years. Survival in the post-HSCT group was 90%. Conclusions Children with CGD not undergoing transplantation have more serious infections, episodes of surgery, and admissions compared with post-HSCT children. Children undergoing transplantation have better height for age. Survival is good at the end of the pediatric age range and also after HSCT.