Haploidentical stem cell transplantation in a boy with chronic granulomatous disease

Abstract

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This causes impaired microbial killing, which leads to severe life-threatening bacterial and fungal infections. Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. Haploidentical HSCT provides a potentially curative treatment option for patients who lack a suitably HLA-matched donor, but only a few cases have been reported in the literature. Herein, we report a boy with X-linked chronic granulomatous disease treated successfully by haploidentical HSCT with post-transplant cyclophosphamide using a treosulfan-based conditioning regimen.

Successful haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide in a child with X-linked chronic granulomatous disease: A first report in Asia

“…12,13 The successfulness of haploidentical HSCT using PTCY in CGD was reported in 2 cases of x-linked CGD from USA and Spain: 12-year-old boy with active pericardial infection with Scedosporium apisopermum 14 and 11-year-old boy with active inflammatory bowel disease. 15 Among reported cases of haploidentical HSCT using PTCY in CGD, there are different in conditioning regimen. Parta et al 14 used non-myeloablative condiditoning with busalfan, fludarabine, cyclophosphamide and total body irradiation, while Regueiro-Garcia et al 15 and shows no sign of infection or GVHD.…”

“…15 Among reported cases of haploidentical HSCT using PTCY in CGD, there are different in conditioning regimen. Parta et al 14 used non-myeloablative condiditoning with busalfan, fludarabine, cyclophosphamide and total body irradiation, while Regueiro-Garcia et al 15 and shows no sign of infection or GVHD. His growth parameters have improved but still lower than those in healthy, age-matched children have.…”

Chronic granulomatous disease 2018: advances in pathophysiology and clinical management

“…PT/Cy controls GvHD without affecting engraftment and allows more rapid reconstitution of donor immunity to opportunistic infections. This promising new technique has been successfully applied in a few CGD patients (Parta et al 2015;Regueiro-García et al 2018) and should now be investigated in a prospective multicenter study. The easy logistics of PT/Cy are an asset in countries with no access to an unrelated donor registry and lacking a sophisticated laboratory for graft manipulations required for conventional T cell depletion of haploidentical grafts.…”

Haploidentical Stem Cell Transplant With Post Transplant Cyclophosphamide for Chronic Granulomatous Disease With Thiotepa, Busulfan, and Fludarabine as Conditioning

“…Mostly reduced intensity conditioning (RIC) has been used to reduce treatment-related mortality but rejection and mixed chimerism is a problem 2–6. Previously 19 cases have been reported of CGD undergoing haploidentical HSCT with PTCy5–8 of whom 11 are alive. Rejection was a big problem in one series of 10 patients using RIC leading to death in 4 patients 6.…”