The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was proposed ten years ago with the identification of the genes underlying hereditary periodic fever syndromes. This nosology has taken root because of the dramatic advances in our knowledge of the genetic basis of both mendelian and complex autoinflammatory diseases, and with the recognition that these illnesses derive from genetic variants of the innate immune system. Herein we propose an updated classification scheme based on the molecular insights garnered over the past decade, supplanting a clinical classification that has served well but is opaque to the genetic, immunologic, and therapeutic interrelationships now before us. We define six categories of autoinflammatory disease: IL-1beta activation disorders (inflammasomopathies), NF-kappaB activation syndromes, protein misfolding disorders, complement regulatory diseases, disturbances in cytokine signaling, and macrophage activation syndromes. A system based on molecular pathophysiology will bring greater clarity to our discourse while catalyzing new hypotheses both at the bench and at the bedside.

中文翻译：

---

恐怖自身炎症：自身炎症的分子病理生理学 (*)。

自身炎症性疾病的特征是看似无缘无故的炎症发作，没有高滴度自身抗体或抗原特异性 T 细胞。这个概念是十年前提出的，当时鉴定了遗传性周期性发热综合征的潜在基因。由于我们对孟德尔疾病和复杂自身炎症疾病的遗传基础知识的巨大进步，以及认识到这些疾病源自先天免疫系统的遗传变异，这种疾病分类学已经扎根。在此，我们基于过去十年中获得的分子见解提出了一种更新的分类方案，取代了一种效果很好但对我们面前的遗传、免疫学和治疗相互关系不透明的临床分类。我们定义了六类自身炎症性疾病：IL-1beta 激活障碍（炎症）、NF-kappaB 激活综合征、蛋白质错误折叠障碍、补体调节疾病、细胞因子信号传导紊乱和巨噬细胞激活综合征。一个基于分子病理生理学的系统将使我们的话语更加清晰，同时在工作台和床边催化新的假设。