A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
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
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
received:
06
02
2022
accepted:
22
07
2022
pubmed:
10
8
2022
medline:
30
11
2022
entrez:
9
8
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35945378
doi: 10.1007/s10875-022-01338-x
pii: 10.1007/s10875-022-01338-x
pmc: PMC9700633
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1742-1747Informations de copyright
© 2022. The Author(s).
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