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Familial Mediterranean fever is characterized by recurring episodes of fever with serositis, arthritis or abdominal pain.Many mutations of the MEFV gene are responsible for the syndrome, but some variants are still of uncertain clinical significance.The p.Pro369Ser and p.Glu148Gln variants are rarely described together and can be pathogenic.

Severe FMF Presentation with Rare Association of MEFV Variants (p.Pro369Ser/p.Glu148Gln)