Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

Data on late complications after hematopoietic stem cell transplantation (HSCT) in children with chronic granulomatous disease (CGD) are limited. We retrospectively analyzed 42 pediatric CGD patients who survived >2 years post-HSCT (1994–2020) at Great Ormond Street Hospital. X-linked CGD accounted for 69%. Pre-HSCT comorbidities included lung disease (48%), colitis/fistulizing disease (45%), and liver abscesses (19%). Median HSCT age was 6 years. 10-year overall survival was 95.2%, and event-free survival (events: death, second intervention) was 81%. 13 (33%) cases developed autoimmunity (AI); eight had relapsing or late-onset (>2 years) AI. Organ-specific late effects included lung abnormalities (n = 7), liver dysfunction (n = 7), renal disease (n = 3), and recurrent/new-onset colitis (n = 3). Endocrine sequelae comprised obesity (n = 15), gonadal dysfunction (n = 9), and short stature (n = 7). Skeletal (n = 6), neurological (n = 6), psychological (n = 19), visual (n = 5), and hearing impairments (n = 4) were noted. Late malignancy was reported in two cases. HSCT offers excellent long-term survival in CGD, but significant late effects underscore the need for extended multidisciplinary follow-up.