Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF

Abstract

Objective. No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF".