title: Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis.
abstract: Although idiopathic recurrent acute pericarditis (IRAP) is generally presumed to derive from an autoimmune process, increasing interest is currently being devoted to autoinflammatory diseases, a group of disorders of the innate immune system caused by mutations of genes involved in the regulation or activation of the inflammatory response, without any apparent involvement of autoimmunity. The tumour necrosis factor receptor-1-associated periodic syndrome is the most common autosomal dominant autoinflammatory disorder and is caused by mutations in the TNFRSF1A gene encoding the 55-kD receptor for tumour necrosis factor-α. IRAP patients carrying TNFRSF1A gene mutations have been recently described. We report herein the first IRAP patients carrying the rare R104Q and D12E TNFRSF1A gene mutations, thus expanding the spectrum of tumour necrosis factor receptor-1-associated periodic syndrome mutations in IRAP patients.
authors.affiliation: Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy. cantariniluca@hotmail.com
authors.forename: L
authors.initials: L
authors.lastname: Cantarini
authors.forename: O M
authors.initials: OM
authors.lastname: Lucherini
authors.forename: A
authors.initials: A
authors.lastname: Vitale
authors.forename: L
authors.initials: L
authors.lastname: Sabadini
authors.forename: M G
authors.initials: MG
authors.lastname: Brizi
authors.forename: B
authors.initials: B
authors.lastname: Frediani
authors.forename: I
authors.initials: I
authors.lastname: Muscari
authors.forename: M
authors.initials: M
authors.lastname: Galeazzi
mesh_terms: D000208:Acute Disease; D000328:Adult; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010493:Pericarditis / Q000175:diagnosis* / Q000235:genetics*; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D012008:Recurrence
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human