Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily through antigen-independent hyperactivation of immune pathways. First recognized just over 2 decades ago, the autoinflammatory disease spectrum has expanded rapidly to include more than 40 distinct monogenic conditions. Related mechanisms contribute to common conditions such as gout and cardiovascular disease. Here, we review the basic concepts underlying the “autoinflammatory revolution” in the understanding of immune-mediated disease and introduce major categories of monogenic autoinflammatory disorders recognized to date, including inflammasomopathies and other IL-1–related conditions, interferonopathies, and disorders of nuclear factor kappa B and/or aberrant TNF activity. We highlight phenotypic presentation as a reflection of pathogenesis and outline a practical approach to the evaluation of patients with suspected autoinflammation.

自身炎症性疾病是致病性炎症主要通过免疫途径的抗原非依赖性过度激活而产生的病症。仅在 20 多年前首次被发现，自身炎症性疾病谱已迅速扩展到包括 40 多种不同的单基因疾病。相关机制导致痛风和心血管疾病等常见疾病。在这里，我们回顾了对免疫介导疾病的理解中“自身炎症革命”的基本概念，并介绍了迄今为止公认的单基因自身炎症性疾病的主要类别，包括炎症和其他 IL-1 相关疾病、干扰素病和核疾病。因子κB和/或异常的TNF活性。