Laboratoire Inflammation, Tissus Epithéliaux et Cytokines (LITEC), EA4331, Université de Poitiers et CHU de Poitiers, 86022 Poitiers, France; Faculty of Sciences II, Lebanese University, Fanar, BP 90656 Jdeidet El Metn, Lebanon.
Laboratoire Commun de Biologie et Génétique Moléculaires, AP-HP, Hôpital Saint-Antoine, 75012 Paris, France.
Cytokine Growth Factor Rev. 2017 Feb;33:19-34. doi: 10.1016/j.cytogfr.2016.11.001. Epub 2016 Nov 22.
Hereditary fever syndromes (HFS) include a group of disorders characterized by recurrent self-limited episodes of fever accompanied by inflammatory manifestations occurring in the absence of infection or autoimmune reaction. Advances in the genetics of HFS have led to the identification of new gene families and pathways involved in the regulation of inflammation and innate immunity. The key role of several cytokine networks in the pathogenesis of HFS has been underlined by several groups, and supported by the rapid response of patients to targeted cytokine blocking therapies. This can be due to the direct effect of cytokine overproduction or to an absence of receptor antagonist resulting in dysbalance of downstream pro- and anti-inflammatory cytokine networks. The aim of this study was to present an overview and to discuss the major concepts regarding the cellular and molecular immunology of HFS, with a particular focus on their specific cytokine signatures and physiopathological implications. Based on their molecular and cellular mechanisms, HFS have been classified into intrinsic and extrinsic IL-1β activation disorders or inflammasomopathies, and protein misfolding disorders. This review integrates all recent data in an updated classification of HFS.
遗传性发热综合征（Hereditary fever syndromes，HFS）包括一组以反复发作的自限性发热伴炎症表现为特征的疾病，这些表现发生在无感染或自身免疫反应的情况下。HFS 遗传学的进展导致了新的基因家族和参与炎症和先天免疫调节的途径的鉴定。几个细胞因子网络在 HFS 发病机制中的关键作用已被几个研究小组强调，并得到了患者对靶向细胞因子阻断治疗的快速反应的支持。这可能是由于细胞因子过度产生的直接作用，或由于缺乏受体拮抗剂导致下游促炎和抗炎细胞因子网络失衡所致。本研究旨在概述和讨论 HFS 的细胞和分子免疫学的主要概念，特别关注其特定的细胞因子特征和生理病理意义。根据其分子和细胞机制，HFS 已被分类为内在和外在的 IL-1β 激活障碍或炎性体病和蛋白质错误折叠障碍。本综述整合了所有最新的数据，对 HFS 进行了更新的分类。
