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Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis
Author(s) -
Cantarini L.,
Lucherini O. M.,
Vitale A.,
Sabadini L.,
Brizi M. G.,
Frediani B.,
Muscari I.,
Galeazzi M.
Publication year - 2013
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/imj.12163
Subject(s) - medicine , tumor necrosis factor alpha , gene , immunology , autoimmunity , pericarditis , innate immune system , receptor , mutation , tumor necrosis factor receptor , immune system , cancer research , genetics , biology
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 TNFRSF 1 A gene encoding the 55‐kD receptor for tumour necrosis factor‐α. IRAP patients carrying TNFRSF 1 A 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.