Purpose: We describe haploidentical hematopoietic cell transplantation (HCT) with high-dose post-transplant cyclophosphamide (PTCy) in a boy with x-linked chronic granulomatous disease (CGD).
Methods: A persistent and life-threatening fungal infection was the indication for HSCT. Non-myeloablative conditioning with PTCy (50 mg/kg days 3 and 4) was used in the absence of fully matched donors.
Results: Engraftment occurred on day 24. The patient experienced Grade 2 graft-versus-host disease of the skin and gastrointestinal tract and CMV infection, both of which were controlled. Chimerism was 100 % at days 30 and 6 months. Cessation of antifungal therapy was consistent with cure of the infection.
Conclusions: Haploidentical HCT with high-dose PTCy for CGD is feasible and succeeded even in the context of active infection.
Keywords: Chronic granulomatous disease; graft versus host disease; haploidentical; hematopoietic cell transplantation; post-transplant cyclophosphamide; scedosporium apiospermum.