Article
NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype.
Clinical and experimental rheumatology - 1 Oct 2023
Demir Ferhat, Sözeri Betül
Abstract excerpt
OBJECTIVES: NLRP12-associated autoinflammatory disease (NLRP12-AID) is a rarely seen periodic fever syndrome also known as familial cold autoinflammatory syndrome-2 (FCAS2), caused by autosomal dominant inherited mutations in the NLRP12 gene. We aimed to present our clinical experience constituting one of the largest paediatric NLRP12-AID cohort. METHODS: The patients with preliminary diagnosis of systemic...
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