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Article

Beyond genotype: clustering analysis highlights clinical heterogeneity in paediatric familial Mediterranean fever.

RMD open - 3 Jul 2026

Mahé Isild, Billard Claire, Anselmi Federica, Rossi-Semerano Linda, Galeotti Caroline, Kone-Paut Isabelle, Dusser Perrine

Abstract excerpt

BACKGROUND: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene. Despite therapeutic advances with colchicine and interleukin-1 (IL-1) inhibitors, FMF shows marked interindividual variability, including among symptomatic heterozygotes, challenging genotype-phenotype correlations. OBJECTIVES: To identify clinically meaningful subgroups of paediatric patients with...

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Source

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Identifiers

PMID: 42399078
DOI: 10.1136/rmdopen-2026-006764
PMCID: PMC13343110

Genes

MEFV

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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