title: Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation.
abstract: 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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address: theresa.cole@ncl.ac.uk.
authors.forename: Theresa
authors.initials: T
authors.lastname: Cole
authors.forename: Mark S
authors.initials: MS
authors.lastname: Pearce
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Cant
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Cale
authors.forename: David
authors.initials: D
authors.lastname: Goldblatt
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Gennery
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000453:epidemiology* / Q000628:therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007239:Infections / Q000209:etiology; D007494:Ireland; D008297:Male; D009017:Morbidity; D009026:Mortality; D016896:Treatment Outcome; D006113:United Kingdom
keywords: AR; Autosomal recessive; BMI; Body mass index; CGD; Chronic granulomatous disease; HSCT; Hematopoietic stem cell transplant; UK; United Kingdom; WHO; World Health Organization; children; hematopoietic stem cell transplant