Σφακιανάκης Αλέξανδρος
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Κυριακή 25 Μαρτίου 2018

Haploidentical stem cell transplantation in a boy with chronic granulomatous disease

Publication date: Available online 17 January 2018
Source:Allergologia et Immunopathologia
Author(s): A. Regueiro-García, S. Fariña-Nogueira, J.Á. Porto-Arceo, J.M. Couselo-Sánchez
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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