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

摘要

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the 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 for most of the 340 reported variants. In this study, the authors designed a functional assay and evaluated its potential in supporting FMF diagnosis.