Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by impaired phagocytic function. Hematopoietic stem cell transplantation (HSCT) is a definitive cure for CGD; however, the use of HSCT is limited because of associated problems, including transplantation-related mortality and engraftment failure. We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and fludarabine reduced-toxicity myeloablative conditioning. Intravenous busulfan was administered once daily for 4 consecutive days (days –8 to –5), and the target area under the curve was 75,000 µg·hr/L. Fludarabine (40 mg/m2) was administered once daily for 6 consecutive days from days –8 to –3. Antithymocyte globulin (2.5 mg/kg/day) was administered from days –4 to –2. The patient underwent successful engraftment and did not have any severe toxicity related to the transplantation. Conditioning with a targeted busulfan and fludarabine regimen could provide a better outcome for HSCT in CGD, with close regulation of the busulfan dose.

Systematic review of literature and analysis of big data from the National Health Insurance System on primary immunodeficiencies in Korea

“…Among the 53 cases of HLH, 20 (37.7%) were reported from Asan Medical Center. Among the 86 CGD cases, 46 (53.5%) were reported from Seoul National University [ 10 , 28 , 29 ]. CTLA4 deficiency (n=5, 1.0%) and familial Mediterranean fever (n=4, 1.0%) were not found in period 1 but were reported in period 2.…”