Familial cold autoinflammatory syndrome 3 (FCAS3) is an autosomal dominant disorder caused by mutations of the PLCG2 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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Ombrello MJ et. al. (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. |
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Gandhi C et. al. (2009) Familial atypical cold urticaria: description of a new hereditary disease. |