Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

doi:10.1136/annrheumdis-2019-216701

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Article

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

Annals of the rheumatic diseases - 1 Jul 2020

Van Gorp Hanne, Huang Linyan, Saavedra Pedro, Vuylsteke Marnik, Asaoka Tomoko, Prencipe Giusi, Insalaco Antonella, Ogunjimi Benson, Jeyaratnam Jerold, Cataldo Ilaria, Jacques Peggy, Vermaelen Karim, Dullaers Melissa, Joos Rik, Sabato Vito, Stella Alessandro, Frenkel Joost, De Benedetti Fabrizio, Dehoorne Joke, Haerynck Filomeen, Calamita Giuseppe, Portincasa Piero, Lamkanfi Mohamed

Abstract excerpt

BACKGROUND AND OBJECTIVE: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the MEFV gene encoding the inflammasome sensor Pyrin. Clinical diagnosis of FMF is complicated by overlap in symptoms with other diseases, and interpretation of genetic testing is confounded by the lack of a clear genotype-phenotype association...

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Identifiers

PMID: 32312770
DOI: 10.1136/annrheumdis-2019-216701
PMCID: PMC7307214

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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