Key result
The rare R104Q and D12E TNFRSF1A gene mutations were identified in patients with idiopathic recurrent acute pericarditis, expanding the known spectrum of mutations in this condition.
Case Report
Identifies rare TNFRSF1A gene mutations in patients with idiopathic recurrent acute pericarditis, highlighting a potential autoinflammatory etiology in a subset of patients.
May suggest autoinflammatory evaluation in recurrent pericarditis; extends TNFRSF1A spectrum but leaves open clinical utility.
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.
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Cantarini et al. (2013) conducted a case report in Idiopathic recurrent acute pericarditis (IRAP). R104Q and D12E TNFRSF1A gene mutations was evaluated. The rare R104Q and D12E TNFRSF1A gene mutations were identified in patients with idiopathic recurrent acute pericarditis, expanding the known spectrum of mutations in this condition.
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