Familial cold autoinflammatory syndrome
Other Names for this Disease
- Familial polymorphous cold eruption
- Familial cold urticaria
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Familial cold autoinflammatory syndrome is caused by changes (mutations) in either one of two genes: NLRP3 or NLRP12. These genes normally provide instructions for making proteins involved in the immune system, helping to regulate the process of inflammation. Changes in these genes impair the body's mechanisms for controlling inflammation, resulting in the signs and symptoms of this condition. It remains unclear why episodes are triggered by cold exposure.
Last updated: 11/1/2013
- Familial cold autoinflammatory syndrome. Genetics Home Reference. September 2008; http://ghr.nlm.nih.gov/condition=familialcoldautoinflammatorysyndrome.