Optimization of X-linked chronic granulomatous disease modelization by using patient-specific induced pluripotent stem cells
Résumé
Induced pluripotent stem cells (iPSCs) are reprogrammed somatic cells with embryonic stem cell (ESC)-like characteristics generated by the introduction of combinations of specific transcription factors. Patient-specific iPSCs can be used to recapitulate disease-specific phenotypes for the screening of new therapies. Chronic granulomatous disease (CGD), a rare inherited immunodeficiency, is characterized by recurrent and severe infections in childhood. The most frequent form is the X-linked CGD (X-CGD) due to mutations in CYBB leading to the absence of Nox2 of the phagocytic NADPH oxidase complex, responsible for the production of microbicidal reactive oxygen species.