NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

• Published in: Rheumatology (Oxford, England) Vol. 59; no. 11; pp. 3129 - 3136
• Main Authors: Del Porto, Flavia, Cifani, Noemi, Proietta, Maria, Verrecchia, Elena, Di Rosa, Roberta, Manna, Raffaele, Chiurazzi, Pietro
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.11.2020
• Subjects: Adult; Cryopyrin-Associated Periodic Syndromes - genetics; Female; Humans; Intracellular Signaling Peptides and Proteins - genetics; Mutation; Pedigree; NLRP12; inflammation; rheumatoid arthritis; autoinflammatory diseases
• ISSN: 1462-0324; 1462-0332; 1462-0332
• DOI: 10.1093/rheumatology/keaa304

Abstract 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 clinical manifestations including autoimmunity and immune deficiencies. In past years, several new variants have been described; however, their clinical relevance is sometimes uncertain, especially when they have been detected in healthy subjects. To our knowledge 61 patients with NLRP12 variants have been reported so far in the literature. Here we report the case of a 33-year-old woman with a history of recurrent fever and symmetric and additive poly-arthritis, fulfilling diagnostic criteria for RA, who was found to harbour two variants in the NLRP12 gene (OMIM *609648) and provide a review of the literature on similar cases.