O332 Outcome of haematopoietic stem cell transplantation in patients with chronic granulomatous disease at a national centre
Introduction: Chronic Granulomatous Disease (CGD) is a rare X-linked or autosomal recessive inherited primary immuno-S69 de64257; ciency leading to multiple opportunistic infections, abscesses and in64258; ammation. 55% survive to 30 years old. HSCT offers curative treatment in patients with severe and life threatening complications from the disease. Methods: Retrospective analysis of case notes of all CGD patients who underwent HSCT in Newcastle Upon Tyne Hospitals NHS Trust. Results: 41 patients have undergone HSCT for CGD since 1997; 35 survived and 6 died (1 during conditioning). Median age at diagnosis and HSCT were 3.21 (range 0-16) and 8.38 (range 0.75-27.2) years respectively. 3 patients were adults (>18 years) at time of transplant. 2 of 6 patients who died had active fungal infection at time of transplant and 1 other died from pulmonary haemorrhage following aspergilloma. Median age at HSCT of those who survived was 7.17 years (range 0.75-16.9) and those who died was 18 years (range 8.33-27.2). 39 patients had had an infection prior to transplant, the commonest being pneumonia or lung abscesses, lymphadenitis and perianal or gluteal abscesses. Aspergillus spp. were the most common organisms isolated, followed by Staphylococcus aureus. 26 patients had CDG-associated colitis prior to transplantation. 40 patients received HSCT, 2 underwent a further transplant due to graft failure and 3 required top-up stem cell transfusions. 15 patients had GvHD, 15 skin (I-II), 4 liver and 2 gut. 6 patients developed chronic GvHD, 1 of whom died. 2 remain on immunosuppression. 1 patient had recurrence of colitis. 28 patients have normal neutrophil oxidative burst (NOB; >95%) after transplant, 6 have a dual population of neutrophils but are clinically normal and 1 patient has <20% NOB and is awaiting further HSCT 6 years after umbilical cord stem cell transplant. All patients with greater than 2 years follow up have shown a response to primary childhood vaccinations. None require antifungal prophylaxis and 2 are on long term antibiotic prophylaxis. Conclusions: HSCT is curative for CGD with 85% survival in this cohort and good long term graft function, restoring neutrophil function and responding to vaccination. In64258; ammatory colitis also resolves post transplant. Survival is related to severity of complications pre-HSCT and hence age at HSCT. HSCT should be considered in the early management of CGD, particularly when there is a well matched donor.
Full conference title:
Annual Meeting of the EBMT, 38th