National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine, Leeds, UK.
Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK.
Rheumatology (Oxford). 2019 Nov 1;58(Suppl 6):vi31-vi43. doi: 10.1093/rheumatology/kez448.
The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for which a genetic basis was established, between 1999 and 2001. Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory. In addition to the abovementioned monogenic conditions, we describe Schnitzler's syndrome, a well-defined, acquired autoinflammatory condition without a clear genetic basis. For the purposes of this review, we discuss several conditions defined by the latest consensus process as systemic autoinflammatory diseases. We focus on those disorders where recent studies have contributed to further phenotypic characterization or had an impact on clinical management.
系统性自身炎症性疾病是固有免疫系统失调导致严重炎症的疾病。遗传性发热综合征，如家族性地中海热、肿瘤坏死因子受体相关周期性综合征、冷吡咯相关周期性综合征和甲羟戊酸激酶缺乏症，是在 1999 年至 2001 年间首次确定遗传基础的一组系统性自身炎症性疾病。目前，根据国际免疫学会联合会的最新报告，37 种单独的单基因疾病被归类为自身炎症性疾病。除了上述单基因疾病外，我们还描述了 Schnitzler 综合征，这是一种明确的获得性自身炎症性疾病，没有明确的遗传基础。为了进行本次综述，我们讨论了最新共识过程中定义的几种系统性自身炎症性疾病。我们重点关注那些最近的研究对其表型特征或临床管理有影响的疾病。
