MEFV gene mutations and their clinical significance in Korean patients with adult-onset Still's disease.

Abstract

MEFV mutations including E148Q mutation were not associated with the development of AOSD patients in Korea. Although high incidence of E148Q mutation was found, E148Q mutation did not show major effect on the clinical features of AOSD. But we need to look for association with clinical response to certain treatments and long-term prognosis.