Familial cold autoinflammatory syndrome 1 (FCAS1) is an autosomal dominant disorder caused by mutations of the NLRP3 gene. It is characterized by recurrent episodes of skin rash with arthralgias, myalgias, fever and chills. Typically those attacks occur after exposure to cold.
As with all cryopyrin-associated periodic syndromes, interleukin-1 antagonism is effective in both management of acute inflammatory attacks and prevention of late-onset complications.
Inflammation | |
In Familial cold autoinflammatory syndrome 1 inflammation develops after exposure to cold. |
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Orphanet article Orphanet ID 47045 |
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OMIM.ORG article Omim 120100 |
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Wikipedia article Wikipedia EN (Cold_urticaria) |