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
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Subject(s)
Humans , Male , Child , Granulomatous Disease, Chronic/surgery , Hematopoietic Stem Cell Transplantation/methods , Cyclophosphamide/therapeutic use , Mycophenolic Acid/therapeutic use , Tacrolimus/therapeutic use , Transplantation Conditioning/methods , Graft vs Host Disease/prevention & controlABSTRACT
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.
Subject(s)
Granulomatous Disease, Chronic/surgery , Hematopoietic Stem Cell Transplantation/methods , Transplantation, Haploidentical/methods , Child , Cyclophosphamide/therapeutic use , Graft vs Host Disease/prevention & control , Humans , Immunosuppressive Agents/therapeutic use , Male , Mycophenolic Acid/therapeutic use , Tacrolimus/therapeutic use , Transplantation Conditioning/methodsABSTRACT
No disponible
