TY - JOUR
T1 - A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease
AU - Migliavacca, M.
AU - Basso, Ricci L.
AU - Farinelli, G.
AU - Calbi, V.
AU - Tucci, F.
AU - Barzaghi, F.
AU - Ferrua, F.
AU - Cicalese, M. P.
AU - Darin, S.
AU - Barzaghi, L. R.
AU - Giglio, F.
AU - Peccatori, J.
AU - Fumagalli, F.
AU - Nicoletti, R.
AU - Giannelli, S.
AU - Sartirana, C.
AU - Bandiera, A.
AU - Esposito, M.
AU - Milani, R.
AU - Mazzi, B.
AU - Finocchi, A.
AU - Marktel, S.
AU - Assanelli, A.
AU - Locatelli, Franco
AU - Ciceri, F.
AU - Aiuti, A.
AU - Bernardo, M. E.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
KW - Hematopoietic stem cell transplantation
KW - Mitochondrial activity
KW - Novel protocol on whole blood
KW - Phagocytes disorders
KW - Primary Immunodeficiency
KW - X linked chronic granulomatous disease
KW - X linked chronic granulomatous disease carriers
KW - hematopoietic stem cell transplantation chimerism and DHR monitored before and after transplantation and in XCGD carriers
KW - strong direct correlation between mitochondrial activity
KW - Hematopoietic stem cell transplantation
KW - Mitochondrial activity
KW - Novel protocol on whole blood
KW - Phagocytes disorders
KW - Primary Immunodeficiency
KW - X linked chronic granulomatous disease
KW - X linked chronic granulomatous disease carriers
KW - hematopoietic stem cell transplantation chimerism and DHR monitored before and after transplantation and in XCGD carriers
KW - strong direct correlation between mitochondrial activity
UR - https://publicatt.unicatt.it/handle/10807/228357
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85135609716&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85135609716&origin=inward
U2 - 10.1007/s10875-022-01338-x
DO - 10.1007/s10875-022-01338-x
M3 - Article
SN - 0271-9142
VL - 42
SP - 1742
EP - 1747
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
IS - 8
ER -