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A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease
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....
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer US
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700633/ https://www.ncbi.nlm.nih.gov/pubmed/35945378 http://dx.doi.org/10.1007/s10875-022-01338-x |
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author | 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 |
author_facet | 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 |
author_sort | Migliavacca, Maddalena |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9700633 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-97006332022-11-27 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 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 J Clin Immunol Original Article 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. Springer US 2022-08-10 2022 /pmc/articles/PMC9700633/ /pubmed/35945378 http://dx.doi.org/10.1007/s10875-022-01338-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/ Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Original Article 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 A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease |
title | A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease |
title_full | A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease |
title_fullStr | A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease |
title_full_unstemmed | A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease |
title_short | A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease |
title_sort | novel assay in whole blood demonstrates restoration of mitochondrial activity in phagocytes after successful hsct in hyperinflamed x-linked chronic granulomatous disease |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700633/ https://www.ncbi.nlm.nih.gov/pubmed/35945378 http://dx.doi.org/10.1007/s10875-022-01338-x |
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