Journal of clinical immunology · 2022
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Migliavacca Maddalena, Basso Ricci Luca, Farinelli Giada, Calbi Valeria, Tucci Francesca, Barzaghi Federica, Ferrua Francesca, Cicalese Maria Pia, Darin Silvia, Barzaghi Lina Raffaella, Giglio Fabio, Peccatori Jacopo, Fumagalli Francesca, Nicoletti Roberto, Giannelli Stefania, Sartirana Claudia, Bandiera Alessandro, Esposito Maria, Milani Raffaella, Mazzi Benedetta, Finocchi Andrea, Marktel Sarah, Assanelli Andrea, Locatelli Franco, Ciceri Fabio, Aiuti Alessandro, Bernardo Maria Ester
Аннотация
X-linked chronic granulomatous disease is a rare disease caused by mutations in the CYBB gene. While more extensive knowledge is available on genetics, pathogenesis, and possible therapeutic options, mitochondrial activity and its implications on patient monitoring are still not well-characterized. We have developed a novel protocol to study mitochondrial activity on whole blood of XCGD patients before and after transplantation, as well as on XCGD carriers. Here we present results of these analyses and of the restoration of mitochondrial activity in hyperinflamed X-linked Chronic Granulomatous Disease after hematopoietic stem cell transplantation. Moreover, we show a strong direct correlation between mitochondrial activity, chimerism, and DHR monitored before and after transplantation and in XCGD carriers. In conclusion, based on these findings, we suggest testing this new ready-to-use marker to better characterize patients before and after treatment and to investigate disease expression in carriers.