Epigenetic, transcriptional, and functional characterization of myeloid cells in familial Mediterranean fever.

ABSTRACT: Familial Mediterranean fever (FMF) is a periodic fever syndrome caused by variation in MEFV. FMF is known for IL-1β dysregulation, but the innate immune landscape of this disease has not been comprehensively described. Therefore, we studied circulating inflammatory proteins, and the function of monocytes and (albeit less extensively) neutrophils in treated FMF patients in remission. We found that monocyte IL-1β and IL-6 production was enhanced upon stimulation, in concordance with alterations in the plasma inflammatory proteome. We did not observe changes in neutrophil functional assays. Subtle differences in chromatin accessibility and transcriptomics in our small patient cohort further argued for monocyte dysregulation. Together, these observations suggest that the MEFV-mut

SUBMITTER: Roring RJ 

PROVIDER: S-EPMC10951896 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature