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Article

Clinical spectrum of pediatric patients carrying heterozygous MEFV gene variants.

European journal of pediatrics - 5 Aug 2026

Erorhan Elif, Avar Aydın Pınar Özge, Aydın Fatma, Bahçeci Onur, Sarısoy Doğacan, Tetik Dinçer Büşra, Taş Aslan Özen, Özçakar Zeynep Birsin

Abstract excerpt

The MEditerranean FeVer (MEFV) gene is a critical regulator of the innate immune response. The prototypical disease related to the MEFV gene is familial Mediterranean fever (FMF). Heterozygous MEFV gene variants have increasingly been reported in association with a wide range of inflammatory disorders besides FMF. The aim of this study was to evaluate the diagnostic spectrum and clinical and demographic findings...

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Adolescent
Child
Child, Preschool
Colchicine
Familial Mediterranean Fever

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 42554873
DOI: 10.1007/s00431-026-07298-3

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MEFV

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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