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Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage.

Seminars in arthritis and rheumatism - 1 Oct 2022

Karamanakos Anastasios, Tektonidou Maria, Vougiouka Olga, Gerodimos Charalampos, Katsiari Christina, Pikazis Dimitrios, Settas Loukas, Tsitsami Elena, Speletas Matthaios, Sfikakis Petros, Germenis Anastasios, Laskari Katerina

Abstract excerpt

OBJECTIVE: To assess the possible impact conferred by co-existing variants in MEditerranean FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype. METHODS: Consecutive patients (n = 42) who underwent screening for SAIDs by next generation sequencing (NGS) targeting 26 genes, and carried at least one MEFV gene variant, were retrospectively studied. A total of 63 MEFV gene variants...

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PMID: 35780723
DOI: 10.1016/j.semarthrit.2022.152055

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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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