Cantarini L, Rigante D, Brizi M G, Sebastiani G D, Lucherini O M, Galeazzi M, Frediani B
Centro di Ricerca Interdipartimentale per le Malattie Autoimmuni Sistemiche ed Autoinfiammatorie, Policlinico Le Scotte, U.O.C. Reumatologia, Università degli Studi di Siena, Viale Bracci 1, Siena, Italy.
Reumatismo. 2011;63(2):101-10. doi: 10.4081/reumatismo.2011.101.
Systemic autoinflammatory diseases are a group of inherited disorders of the innate immunity characterized by the recurrence of febrile attacks lasting from few hours to few weeks and multi-district inflammation of different severity involving skin, serosal membranes, joints, gastrointestinal tube and central nervous system. The vast majority of these conditions is caused by mutations in genes involved in the control of inflammation and apoptosis mechanisms. The group includes familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, hereditary pyogenic and granulomatous disorders. Their diagnostic identification derives from the combination of clinical and biohumoral data, though can be sometimes confirmed by genotype analysis.
系统性自身炎症性疾病是一组先天性免疫的遗传性疾病，其特征为发热发作反复出现，持续数小时至数周，以及不同严重程度的多部位炎症，累及皮肤、浆膜、关节、胃肠道和中枢神经系统。这些病症绝大多数是由参与炎症和细胞凋亡机制控制的基因突变引起的。该组疾病包括家族性地中海热、甲羟戊酸激酶缺乏综合征、肿瘤坏死因子受体相关周期性综合征、冷吡啉相关周期性综合征、遗传性化脓性和肉芽肿性疾病。它们的诊断识别源于临床和生物体液数据的结合，不过有时可通过基因型分析得到证实。
