R262W, L307P, and V200M are specific point mutations in NALP3 gene, also known as cold-induced autoinflammatory syndrome 1 gene (CIAS1), and pyrin-containing Apaf-1–like protein (PYPAF1) are associated with familial cold urticaria (FCU)/ familial cold autoinflammatory syndrome (FCAS) and Muckle-wells syndrome (MWS). This evidence concerns the gene NLRP3 and Down syndrome.