Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of California, San Diego, 9500 Gilman Drive MC 0760, La Jolla, CA 92093, USA.
Immunol Allergy Clin North Am. 2019 Feb;39(1):13-29. doi: 10.1016/j.iac.2018.08.004. Epub 2018 Nov 1.
The autoinflammatory diseases encompass approximately 30 monogenic disorders in which inborn errors in the innate immune system lead to episodic systemic inflammation. Largely mediated by dysregulation of myeloid cells, interleukin (IL)-1β, type I interferon, and NF-κB, these disorders have rapidly expanded over the past several years, and increasing numbers of patients identified. Crossover disorders, bridging autoinflammation and immunodeficiency, have recently been described. This article focuses on the clinical presentation of IL-1 and interferon-driven autoinflammatory disorders, and discusses novel diseases with features of immunodeficiency. Approaches to the clinical diagnosis, genetic testing, and treatment of these disorders are addressed.
自身炎症性疾病包括约 30 种单基因疾病，其中先天免疫系统的先天缺陷导致间歇性全身炎症。这些疾病主要由髓样细胞、白细胞介素 (IL)-1β、I 型干扰素和 NF-κB 的失调介导，在过去几年中迅速扩展，被识别的患者数量不断增加。最近已经描述了交叉疾病，即自身炎症和免疫缺陷之间的桥梁。本文重点介绍了由 IL-1 和干扰素驱动的自身炎症性疾病的临床表现，并讨论了具有免疫缺陷特征的新疾病。本文还讨论了这些疾病的临床诊断、基因检测和治疗方法。
