title: A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation.
authors.forename: R L
authors.initials: RL
authors.lastname: Shpall
authors.forename: E W B
authors.initials: EW
authors.lastname: Jeffes
authors.forename: H M
authors.initials: HM
authors.lastname: Hoffman
mesh_terms: D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D003080:Cold Temperature / Q000009:adverse effects*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D013577:Syndrome; D014581:Urticaria / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human