To determine outcomes and survival in patients with chronic granulomatous disease (CGD) after hematopoietic stem cell transplantation (HSCT) in both HLA-matched related (MRD) and unrelated donor (MUD) transplants.

This is a single-center retrospective cohort study of 11 children with a diagnosis of CGD, a history of at least 1 invasive infection, and 70% meeting parameters indicative of high-risk disease. Nine children had X-linked CGD, 1 had autosomal recessive CGD, and 1 did not have an identifiable mutation. Nine of the 11 patients were boys, and mean age at transplantation was 3.8 years (range: 11 months to 13 years).

Of the 11 patients studied, 4 received HSCT from 6/6 HLA-MRDs (siblings); 7 received HSCT from 10/10 HLA-genoidentical MUDs. All patients underwent busulfan-based myeloablation (with addition of cyclophosphamide, cytarabine, or fludarabine) and graft-versus-host disease (GvHD) prophylaxis with cyclosporine A. Time to engraftment was defined as time from transplantation to time of neutrophil...

You do not currently have access to this content.