Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy.
Intern Med J. 2013 Jun;43(6):725-7. doi: 10.1111/imj.12163.
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.
虽然特发性复发性急性心包炎（IRAP）通常被认为源自自身免疫过程，但目前人们越来越关注自身炎症性疾病，这是一组由参与炎症反应调节或激活的基因的突变引起的先天免疫系统紊乱，而没有任何明显的自身免疫参与。肿瘤坏死因子受体 1 相关周期性综合征是最常见的常染色体显性自身炎症性疾病，由编码肿瘤坏死因子-α 的 55kDa 受体的 TNFRSF1A 基因突变引起。最近已经描述了携带 TNFRSF1A 基因突变的 IRAP 患者。我们在此报告了首例携带罕见的 R104Q 和 D12E TNFRSF1A 基因突变的 IRAP 患者，从而扩大了 IRAP 患者中肿瘤坏死因子受体 1 相关周期性综合征突变的范围。
