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

• Published in: Journal of clinical immunology Vol. 42; no. 8; pp. 1742 - 1747
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.11.2022; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Biopsy; Bone marrow; Chimerism; Chronic granulomatous disease; CYBB protein; Gene therapy; Granulocytes; Granulomatous Disease, Chronic - diagnosis; Granulomatous Disease, Chronic - genetics; Granulomatous Disease, Chronic - therapy; Hematopoietic Stem Cell Transplantation; Hematopoietic stem cells; Heterozygote; Humans; Immunology; Infectious Diseases; Internal Medicine; Kinases; Laboratories; Medical Microbiology; Mitochondria; Mutation; Original; Original Article; Patients; Phagocytes; Software; Stem cell transplantation; Thoracic surgery; Vertebrae; Mitochondrial activity; X linked chronic granulomatous disease carriers; Phagocytes disorders; Novel protocol on whole blood; strong direct correlation between mitochondrial activity, hematopoietic stem cell transplantation chimerism and DHR monitored before and after transplantation and in XCGD carriers; Primary Immunodeficiency; X linked chronic granulomatous disease; Hematopoietic stem cell transplantation
• ISSN: 0271-9142; 1573-2592; 1573-2592
• DOI: 10.1007/s10875-022-01338-x

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.