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Article

Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?

Journal of clinical immunology - 10 Jun 2025

Baggio Chiara, Oliviero Francesca, Galozzi Paola, Guidea Irina, Doria Andrea, Ramonda Roberta, Bindoli Sara, Sfriso Paolo

Abstract excerpt

Familial Mediterranean Fever (FMF) is caused by mutations in the MEFV gene, which encodes for pyrin. Although genetic testing is commonly employed for FMF diagnosis, the interpretation of genetic results is often challenging. Therefore, we aimed to functionally characterise the p.R202Q MEFV alteration. Furthermore, we hypothesized that inflammation may affect genomic stability and neutrophilic (N) subsets. A...

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Identifiers

PMID: 40493122
DOI: 10.1007/s10875-025-01898-8
PMCID: PMC12152063

Genes

MEFV
UCN
PKN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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