Contemporary strategies in stem cell transplantation for chronic granulomatous disease

Abstract

: Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by recurrent, often life-threatening, infections and a dysregulated immune response. Through early diagnosis, infection surveillance, and prophylactic antimicrobials, survival has improved with greater than 90% of patients living into early adulthood. Despite this improvement, nearly 50% of patients with CGD do not survive past 30 years of age. Furthermore, compounding morbidities from infections and inflammatory disease significantly compromise quality of life. Allogenic hematopoietic stem cell transplantation (HSCT) is curative for CGD. Advances in stem cell transplant, including use of alternative donors and reduction in acute and late toxicities, have improved outcomes leading to expanded use of transplant for chronic granulomatosis disease. Reduced toxicity and reduced intensity conditioning (RIC) regimens are increasingly utilized with excellent disease free and overall survival (OS). We review approaches for HSCT in patients with CGD, including impact of patient and donor characteristics on outcomes, conditioning regimens that have demonstrated success, and continued challenges of transplant-related morbidity and post-transplant autoimmunity.