1. [Fever from the cold--familial cold autoinflammatory syndrome].
- Author
-
Alhopuro P, Klimenko T, and Aittomäki K
- Subjects
- Adult, Female, Humans, Male, Mutation, NLR Family, Pyrin Domain-Containing 3 Protein, Pedigree, Amyloidosis, Familial genetics, Carrier Proteins genetics, Fever genetics
- Abstract
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.
- Published
- 2009