A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation.
Shpall
R L
RL
Jeffes
E W B
EW
Hoffman
H M
HM
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*
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human