Disease cohorts included juvenile idiopathic arthritis (including SJIA) (24 studies, 2001 patients) and defined SAIDs including familial mediterranean fever (FMF) (11 studies, 338 patients), cryopyrin-associated periodic syndromes (CAPS) (7 studies, 135 patients) and mevalonate kinase deficiency (MKD) (1 study, 74 patients). The gene discussed is NLRP3; the disease is juvenile idiopathic arthritis.