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.

Migliavacca, M., Basso Ricci, L., Farinelli, G., Calbi, V., Tucci, F., Barzaghi, F., et al. (2022). A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease. JOURNAL OF CLINICAL IMMUNOLOGY, 42(8), 1742-1747 [10.1007/s10875-022-01338-x].

A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease

Migliavacca, Maddalena;Barzaghi, Federica;Finocchi, Andrea;Aiuti, Alessandro;
2022-11-01

Abstract

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.
nov-2022
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/38
Settore MEDS-20/A - Pediatria generale e specialistica
English
Con Impact Factor ISI
Hematopoietic stem cell transplantation
Mitochondrial activity
Novel protocol on whole blood
Phagocytes disorders
Primary Immunodeficiency
X linked chronic granulomatous disease
X linked chronic granulomatous disease carriers
strong direct correlation between mitochondrial activity, hematopoietic stem cell transplantation chimerism and DHR monitored before and after transplantation and in XCGD carriers
Migliavacca, M., Basso Ricci, L., Farinelli, G., Calbi, V., Tucci, F., Barzaghi, F., et al. (2022). A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease. JOURNAL OF CLINICAL IMMUNOLOGY, 42(8), 1742-1747 [10.1007/s10875-022-01338-x].
Migliavacca, M; Basso Ricci, L; Farinelli, G; Calbi, V; Tucci, F; Barzaghi, F; Ferrua, F; Cicalese, Mp; Darin, S; Barzaghi, Lr; Giglio, F; Peccatori, ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/389433
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