Haploidentical stem cell transplantation in a boy with chronic granulomatous disease

• A. Regueiro-García ^[1] ; S. Fariña-Nogueira ^[1] ; J.Á. Porto-Arceo ^[1] ; J.M. Couselo-Sánchez ^[1]
  1. [1] Hospital Clínico Universitario de Santiago, España
• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 46, Nº. 4, 2018, págs. 385-388
• Idioma: inglés
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• Resumen

  • 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.