Department of Pathology and Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Clin Exp Immunol. 2012 Mar;167(3):382-90. doi: 10.1111/j.1365-2249.2011.04535.x.
OTHER THEMES PUBLISHED IN THIS IMMUNOLOGY IN THE CLINIC REVIEW SERIES Allergy, Host Responses, Cancer, Type 1 diabetes and viruses, Metabolic diseases.
Autoinflammatory syndromes are disorders characterized by the hyperactivation of the innate immune system in the absence of microbial infection or autoantibody production. Some autoinflammatory syndromes are associated with recurrent episodes of fever and systemic inflammation that are caused by dysregulated activation of inflammasomes, molecular platforms responsible for the activation of caspase-1 and the production of interleukin (IL)-1β. In this review we will discuss the role of IL-1β and the inflammasomes in host defence and how mutations of two genes, NLRP3 and PYRIN, leads to the autoinflammatory syndromes, cryopyrin-associated periodic syndromes (CAPS) and familial Mediterranean fever (FMF). Both CAPS and FMF are characterized by increased inflammasome activity and overproduction of IL-1β which is ultimately responsible for disease manifestations. Importantly, understanding the molecular mechanisms of these syndromes has led to effective treatment for these rare diseases with biological drugs that target IL-1β-mediated signalling.
本免疫学临床评论系列还发表了其他主题，涵盖过敏、宿主反应、癌症、1 型糖尿病与病毒、代谢疾病等。
自身炎症性疾病的特征是固有免疫系统在没有微生物感染或自身抗体产生的情况下过度激活。一些自身炎症性疾病与反复发作的发热和全身炎症有关，其原因是炎性小体的失调激活，炎性小体是负责激活半胱天冬酶-1 和白细胞介素 (IL)-1β产生的分子平台。在这篇综述中，我们将讨论 IL-1β 和炎性小体在宿主防御中的作用，以及 NLRP3 和 PYRIN 这两个基因的突变如何导致自身炎症性疾病，即 Cryopyrin 相关周期性综合征 (CAPS) 和家族性地中海热 (FMF)。CAPS 和 FMF 的特征均为炎性小体活性增加和 IL-1β过度产生，这最终导致了疾病的表现。重要的是，对这些综合征的分子机制的理解，导致了针对 IL-1β 介导的信号通路的生物药物治疗这些罕见疾病的有效方法。
