The Warren Alpert Medical School of Brown University, Providence, RI, USA.
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Am J Clin Dermatol. 2019 Aug;20(4):539-564. doi: 10.1007/s40257-019-00440-y.
The autoinflammatory diseases comprise a broad spectrum of disorders characterized by unchecked activation of the innate immune system. Whereas aberrations in adaptive immunity have long been identified in 'autoimmune' disorders, the concept of 'autoinflammation' emerged relatively recently, first describing a group of clinical disorders characterized by spontaneous episodes of systemic inflammation without manifestations typical of autoimmune disorders. Improved knowledge of innate immune mechanisms, coupled with remarkable progress in genomics and an expanding number of clinical cases, has since led to an increasing number of disorders classified as autoinflammatory or containing an autoinflammatory component. Biologic therapies targeting specific components of the innate immune system have provided immense clinical benefit, and have further elucidated the role of innate immunity in autoinflammatory disorders. This article reviews the basic mechanisms of autoinflammation, followed by an update on the pathophysiology and treatment of the monogenic and multifactorial autoinflammatory diseases, and the common dermatologic conditions in which autoinflammation plays a major role.
自身炎症性疾病包括一大类以固有免疫系统失控激活为特征的疾病。虽然适应性免疫的异常在“自身免疫性”疾病中早已被确定，但“自身炎症”的概念是最近才出现的，它首先描述了一组以自发性全身炎症发作为特征的临床疾病，没有自身免疫性疾病的典型表现。固有免疫机制的知识不断完善，加上基因组学的显著进步和越来越多的临床病例，使得越来越多的疾病被归类为自身炎症性疾病或包含自身炎症性成分。针对固有免疫系统特定成分的生物疗法提供了巨大的临床益处，并进一步阐明了固有免疫在自身炎症性疾病中的作用。本文综述了自身炎症的基本机制，接着更新了单基因和多因素自身炎症性疾病的病理生理学和治疗方法，以及固有免疫在其中起主要作用的常见皮肤科疾病。
