Familial cold autoinflammatory syndrome 4 (FCAS4) is an autosomal dominant disorder caused by mutations of the NLRC4 gene. It is characterized by recurrent episodes of skin rash with arthralgias, myalgias, fever and chills. Typically those attacks occur after exposure to cold.
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Kitamura A et. al. (2014) An inherited mutation in NLRC4 causes autoinflammation in human and mice. |