The CINCA syndrome is an inflammatory disease characterised by persistent rash and chronic aseptic meningitis, with extensive infiltration of polymorphonuclear and macrophage cells at the sites of inflammation. The CINCA syndrome belongs to the group of systemic autoinflammatory diseases characterised by episodic or fluctuating degrees of inflammation, without evidence of high-titre autoantibodies or antigen-specific T cells. The disease is caused by mutations in the CIAS1 gene that encodes a protein cryopyrin, NALP3 or PYPAF1. Mutations in cryopyrin have a profound pro-inflammatory effect. Cryopyrin is a caspase 1 activator, which in turn causes the activation of interleukin (IL)1ß. The activating mutations of cryopyrin induce an excessive activation of IL1ß, which causes an influx of macrophages and polymorphonuclear cells to the site of inflammation, in our patient, in his eye.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Competing interests: None.