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Validity of the Eurofever/PRINTO genetic FMF classification criteria in FMF and PFAPA patients carrying non-confirmatory MEFV gene mutations.

Clinical rheumatology - 1 Feb 2026

Ilgaz Tüzen Hande, Yardımcı Yeşim, Güneş Yılmaz Seviye, Kanık Ali, Kasap Demir Belde

Abstract excerpt

OBJECTIVE: Familial Mediterranean Fever (FMF) and Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) syndrome are autoinflammatory diseases that may present with similar clinical symptoms. The presence of a non-confirmatory MEFV gene variant and overlapping clinical features can complicate differential diagnosis between the two conditions. The aim of this study is to evaluate the distinctive...

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Identifiers

PMID: 41313543
DOI: 10.1007/s10067-025-07791-4

Genes

MEFV

Provenance

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

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