Gorp HV, Huang L, Saavedra P, et al. - A functional assay was designed to test its potential in supporting familial mediterranean fever (FMF) diagnosis. Researchers collected peripheral blood mononuclear cells from patients with Pyrin-associated autoinflammation with an FMF phenotype (n=43) or with autoinflammatory features not compatible with FMF (n=8), 10 asymptomatic carriers and 48 healthy donors. They collected sera from patients with distinct autoinflammatory diseases (n=10), and whole blood from a subset of patients and controls. They evaluated clinical, demographic, molecular genetic factors and other characteristics of the patient population for their effect on the diagnostic test read-out. Interleukin (IL)-1β and IL-18 levels were measured by Luminex assay. The outcomes of this research demonstrate that the ex vivo colchicine assay may support diagnosis of FMF and functional subtyping of Pyrin-associated autoinflammation.