Article
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.
The Journal of rheumatology - 1 Jun 2016
Sobolewska Bianka, Angermair Eva, Deuter Christoph, Doycheva Deshka, Kuemmerle-Deschner Jasmin, Zierhut Manfred
Abstract excerpt
OBJECTIVE: Cryopyrin-associated periodic syndrome (CAPS) is a group of inherited autoinflammatory disorders caused by mutations in the NLRP3 gene resulting in the overproduction of interleukin 1β. NLRP3 mutations cause a broad clinical phenotype of CAPS. The aims of the study were to evaluate clinical, laboratory, and genetic features of a 5-generation family with CAPS focusing in detail on ocular symptoms....
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