Cryopyrin-associated periodic syndrome is a goup of allelic disorders caused by mutations of Cryopyrin (NLRP3 gene) with overlapping clinical features. They have in common periodic inflammation accompanied by fever and renal amyloidosis. About 30% of diseases are caused by somatic mutations.
The group of cryopyrin-associated periodic syndrome consists of three different phenotypes:
Treatment with interleukin-1 antagonists not only results in prompt clinical improvement but also prevention of amyloidosis.
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Orphanet article Orphanet ID 208650 |
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Wikipedia article Wikipedia EN (Cryopyrin-associated_periodic_syndrome) |