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familial cold autoinflammatory syndrome


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A group of rare autosomal dominant systemic inflammatory diseases (familial cold urticaria) characterized by episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold. Type 1 is caused by mutation in cryopyrin, type 2 is caused by mutation in NLRP12 (NACHT, LRR, and PYD domains-containing protein 12).

Subjects: Medicine and Health.


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