Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting in severe infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (HSCT) restores immune function and improves patient outcomes.
This retrospective study included all patients diagnosed with CGD who underwent HSCT at our institution.
This study included 12 CGD patients. Seven received geno-identical transplants and five received haplo-identical transplants. Pretransplant infectious manifestations included pneumonia (n = 11), hepatic abscesses (n = 2), septicemia (n = 5), invasive pulmonary aspergillosis (n = 11), and BCGitis (n = 6). The median age at HSCT was 73 months (SD 45.6), with a range from 11.5 to 164 months, and the median time from diagnosis to HSCT was 40.3 months (SD 35.8), ranging from 3.1 to 140 months. Graft versus host disease was observed in 10 patients, predominantly cutaneous and of grades 1-2. Two patients developed persistent inflammatory colitis; one showed improvement in hemorrhagic rectocolitis, and the other had mild residual congestive rectitis. The overall survival rate at last follow-up was 91.7%. The mortality rate post HSCT was low, with only one patient succumbing to septicemia one month after the procedure. As for post-transplant immune function, the DHR response was observed at 77%, 93%, and 95% in one, one, and three cases, respectively, while two additional tests, lacking DHR results, showed normal NBT test outcomes.
HSCT provided a favorable outcome for most CGD patients, with a low mortality rate and effective management of infections and GVHD. However, persistent inflammatory colitis remains a challenge post-transplant.
