[Fever from the cold--familial cold autoinflammatory syndrome].
Familial cold autoinflammatory syndrome (FCAS) is a dominantly inherited syndrome caused by mutations of the CIAS1 gene. It is characterized by recurrent episodes involving fever, urticaria, articular symptoms and conjunctivitis. The episodes may be associated with exposure to cold. In some families, association with reactive AA amyloidosis has been described for the syndrome. We describe a Finnish family, in which at least 16 persons were affected with FCAS, and one person had been diagnosed with renal amyloidosis.
Alhopuro
Pia
P
HUSLAB, perinnöllisyyslääketieteen yksikkö, PL 140, 00029 HUS.
Klimenko
Taras
T
Aittomäki
Kristiina
K
D000328:Adult; D028226:Amyloidosis, Familial / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D005334:Fever / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human