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Article

Next-generation sequencing reveals genetic heterogeneity in MEFV-negative or heterozygous familial Mediterranean fever: a retrospective study.

Expert review of clinical immunology - 1 Mar 2026

Karaer Derya, Durak Taner, Aydin Leyla Rezan, Türel Samet, Tokgün Pervin Elvan, Kilbaş Gülşah, Ayduran Semra, Tokgün Onur, Yüksel Selçuk, Karaer Kadri

Abstract excerpt

BACKGROUND: Familial Mediterranean Fever (FMF) is traditionally linked to MEFV mutations. However, many patients remain genetically unexplained after routine screening. This study evaluates the utility of Next-Generation Sequencing (NGS) in patients with negative or heterozygous MEFV results from fragment analysis. METHODS: We analyzed 320 patients clinically diagnosed with FMF who had either no mutations or a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42001281
DOI: 10.1080/1744666X.2026.2660767

Genes

MEFV
NOD2
PSTPIP1
TNFRSF1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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