Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa Cerrahpaşa School of Medicine, İstanbul, Turkey
Balkan Med J. 2020 Aug 11;37(5):236-246. doi: 10.4274/balkanmedj.galenos.2020.2020.4.82. Epub 2020 Apr 27.
Autoinflammatory diseases are characterized by recurrent fevers and clinical findings of impaired natural immunity and can involve various organ systems. The concept of autoinflammatory disease emerged after the definition of familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome. This new disease group was considered to differ from the standard concept of autoimmune diseases, which is relatively better known in terms of basic features, such as defects in innate immunity and the absence of antibodies. A better understanding has been achieved regarding the genetic and pathogenetic mechanisms of this relatively new disease group over the past 20 years since they were first diagnosed, which have led to some changes in the concept of autoinflammatory diseases. The recent definition classifies autoinflammatory disease to be a wide range of diseases with different clinical features, mainly accompanied by changes in innate immune and rarely in humoral immunity. The spectrum of autoinflammatory diseases is rapidly expanding owing to recent developments in molecular sciences and genetics. This review article discusses the clinical features, classification criteria, treatment options, and long-term prognosis of periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome, and other common autoinflammatory diseases in the light of current literature.
自身炎症性疾病的特征是反复发作的发热和天然免疫受损的临床发现，并可涉及各种器官系统。自身炎症性疾病的概念是在家族性地中海热和肿瘤坏死因子受体相关周期性综合征的定义之后出现的。与自身免疫性疾病的标准概念相比，该新疾病组被认为有所不同，因为自身免疫性疾病在固有免疫缺陷和缺乏抗体等基本特征方面相对更为人所知。自首次诊断以来的过去 20 年中，人们对这些相对较新的疾病组的遗传和发病机制有了更好的理解，这导致了自身炎症性疾病概念的一些变化。最近的定义将自身炎症性疾病分类为具有不同临床特征的广泛疾病，主要伴有固有免疫的改变，很少伴有体液免疫的改变。由于分子科学和遗传学的最新发展，自身炎症性疾病的范围正在迅速扩大。本文根据当前文献讨论了周期性发热、口疮性口炎、咽炎、淋巴结炎综合征和其他常见自身炎症性疾病的临床特征、分类标准、治疗选择和长期预后。
