Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults

• Published in: Blood Vol. 136; no. 10; pp. 1201 - 1211
• Main Authors: Chiesa, Robert, Wang, Junfeng, Blok, Henric-Jan, Hazelaar, Sheree, Neven, Benedicte, Moshous, Despina, Schulz, Ansgar, Hoenig, Manfred, Hauck, Fabian, Al Seraihy, Amal, Gozdzik, Jolanta, Ljungman, Per, Lindemans, Caroline A., Fernandes, Juliana F., Kalwak, Krzysztof, Strahm, Brigitte, Schanz, Urs, Sedlacek, Petr, Sykora, Karl-Walter, Aksoylar, Serap, Locatelli, Franco, Stepensky, Polina, Wynn, Robert, Lum, Su Han, Zecca, Marco, Porta, Fulvio, Taskinen, Mervi, Gibson, Brenda, Matthes, Susanne, Karakukcu, Musa, Hauri-Hohl, Mathias, Veys, Paul, Gennery, Andrew R., Lucchini, Giovanna, Felber, Matthias, Albert, Michael H., Balashov, Dmitry, Lankester, Arjan, Güngör, Tayfun, Slatter, Mary A.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 03.09.2020
• Subjects: Adolescent; Adult; Child; Child, Preschool; Female; Follow-Up Studies; Granulomatous Disease, Chronic - pathology; Granulomatous Disease, Chronic - therapy; Hematopoietic Stem Cell Transplantation - methods; Hematopoietic Stem Cell Transplantation - mortality; Humans; Infant; Male; Medicin och hälsovetenskap; Middle Aged; Prognosis; Retrospective Studies; Survival Rate; Transplantation Conditioning; Transplantation, Homologous; Young Adult
• ISSN: 0006-4971; 1528-0020; 1528-0020
• DOI: 10.1182/blood.2020005590

Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure the disease, but the indication to transplant remains controversial. We performed a retrospective multicenter study of 712 patients with CGD who underwent allo-HCT transplantation from March 1993 through December 2018. We studied 635 children (aged <18 years) and 77 adults. Median follow-up was 45 months. Median age at transplantation was 7 years (range, 0.1-48.6). Kaplan-Meier estimates of overall survival (OS) and event-free survival (EFS) at 3 years were 85.7% and 75.8%, respectively. In multivariate analysis, older age was associated with reduced survival and increased chronic graft-versus-host disease. Nevertheless, OS and EFS at 3 years for patients ≥18 years were 76% and 69%, respectively. Use of 1-antigen-mismatched donors was associated with reduced OS and EFS . No significant difference was found in OS, but a significantly reduced EFS was noted in the small group of patients who received a transplant from a donor with a >1 antigen mismatch. Choice of conditioning regimen did not influence OS or EFS. In summary, we report an excellent outcome after allo-HCT in CGD, with low incidence of graft failure and mortality in all ages. Older patients and recipients of 1-antigen-mismatched grafts had a less favorable outcome. Transplantation should be strongly considered at a younger age and particularly in the presence of a well-matched donor. •An excellent outcome was obtained after allo-HCT in 712 patients with CGD, with a low incidence of graft failure and mortality.•HCT for CGD should be strongly considered in young patients, particularly in the presence of a well-matched donor. [Display omitted]