Article
NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.
Rheumatology (Oxford, England) - 1 Nov 2020
Del Porto Flavia, Cifani Noemi, Proietta Maria, Verrecchia Elena, Di Rosa Roberta, Manna Raffaele, Chiurazzi Pietro
Abstract excerpt
Systemic auto-inflammatory diseases (SAID) are a group of rare inherited conditions characterized by a dysregulation of the immune system and associated with recurrent episodes of fever and systemic inflammation. Patients with NLRP12 variants develop a rare autosomal dominant condition known as familial cold-induced autoinflammatory syndrome (FCAS2, OMIM #611762) that has been related to several different...
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