Department of Paediatric and Adult Rheumatology, University Hospital Motol, Prague, Czechia.
Department of Immunology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Front Immunol. 2021 Feb 1;11:619257. doi: 10.3389/fimmu.2020.619257. eCollection 2020.
Autoinflammatory diseases (AIDs) represent a rare and heterogeneous group of disorders characterized by recurrent episodes of inflammation and a broad range of clinical manifestations. The most common symptoms involve recurrent fevers, musculoskeletal symptoms, and serositis; however, AIDs can also lead to life-threatening complications, such as macrophage activation syndrome (MAS) and systemic AA amyloidosis. Typical monogenic periodic fever syndromes include cryopyrin-associated periodic fever syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency/hyper IgD syndrome (MKD/HIDS), and familial Mediterranean fever (FMF). However, a number of other clinical entities, such as systemic juvenile idiopathic arthritis (sJIA), adult-onset Still's disease (AOSD), Kawasaki disease (KD) and idiopathic recurrent pericarditis (IRP), display similar phenotypical and immunological features to AIDs. All these diseases are pathophysiologicaly characterized by dysregulation of the innate immune system and the central pathogenic role is attributed to the IL-1 cytokine family (IL-1α, IL-1β, IL-1Ra, IL-18, IL-36Ra, IL-36α, IL-37, IL-36β, IL-36g, IL-38, and IL-33). Therefore, reasonable therapeutic approaches aim to inhibit these cytokines and their pathways. To date, several anti-IL-1 therapies have evolved. Each drug differs in structure, mechanism of action, efficacy for the treatment of selected diseases, and side effects. Most of the available data regarding the efficacy and safety of IL-1 inhibitors are related to anakinra, canakinumab, and rilonacept. Other promising therapeutics, such as gevokizumab, tadekinig alfa, and tranilast are currently undergoing clinical trials. In this review, we provide sophisticated and up-to-date insight into the therapeutic uses of different IL-1 inhibitors in monogenic periodic fever syndromes.
自身炎症性疾病(AIDs)是一组罕见且异质性的疾病,其特征为反复发作的炎症和广泛的临床表现。最常见的症状包括反复发作的发热、肌肉骨骼症状和浆膜炎;然而,AIDs 也可导致危及生命的并发症,如巨噬细胞活化综合征(MAS)和系统性 AA 淀粉样变性。典型的单基因周期性发热综合征包括 Cryopyrin 相关周期性发热综合征(CAPS)、肿瘤坏死因子受体相关周期性发热综合征(TRAPS)、甲羟戊酸激酶缺乏/高 IgD 综合征(MKD/HIDS)和家族性地中海热(FMF)。然而,许多其他临床实体,如全身型幼年特发性关节炎(sJIA)、成人Still 病(AOSD)、川崎病(KD)和特发性复发性心包炎(IRP),表现出与 AIDs 相似的表型和免疫学特征。所有这些疾病的病理生理学特征均为固有免疫系统失调,IL-1 细胞因子家族(IL-1α、IL-1β、IL-1Ra、IL-18、IL-36Ra、IL-36α、IL-37、IL-36β、IL-36g、IL-38 和 IL-33)在其中发挥中心致病作用。因此,合理的治疗方法旨在抑制这些细胞因子及其通路。迄今为止,已经出现了几种抗 IL-1 治疗方法。每种药物在结构、作用机制、对选定疾病的疗效和副作用方面均有所不同。关于 IL-1 抑制剂的疗效和安全性的大多数现有数据均与 anakinra、canakinumab 和 rilonacept 相关。其他有前途的治疗药物,如 gevokizumab、tadekinig alfa 和 tranilast,目前正在进行临床试验。在这篇综述中,我们提供了关于不同 IL-1 抑制剂在单基因周期性发热综合征中的治疗用途的深入和最新见解。