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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial cold autoinflammatory syndrome


Other Names for this Disease

  • Familial cold urticaria
  • Familial polymorphous cold eruption
  • FCAS
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Cause

Newline Maker

What causes familial cold autoinflammatory syndrome?

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.[6297]
Last updated: 11/1/2013

References
  1. Familial cold autoinflammatory syndrome. Genetics Home Reference. September 2008; http://ghr.nlm.nih.gov/condition=familialcoldautoinflammatorysyndrome.


Other Names for this Disease
  • Familial cold urticaria
  • Familial polymorphous cold eruption
  • FCAS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.