Autoinflammatory Disease Center, Beth Israel Deaconess Medical Center, 110 Francis Street, Suite 4b, Boston, MA 02215, United States; Autoinflammatory Diseases Clinic, Boston Children's Hospital, 300 Longwood Avenue, Fegan 6, Boston, MA 02115, United States; Harvard Medical School, Boston, United States.
Clin Immunol. 2019 Sep;206:23-32. doi: 10.1016/j.clim.2018.10.016. Epub 2018 Oct 28.
Autoinflammatory diseases are rare group of conditions manifested by recurrent fevers, systemic inflammation, and dysfunctions of the innate immune system. These conditions are characterized by overproduction or lack of inhibition of various cytokines, and the advent of biologic drugs that block specific cytokines involved in these conditions has revolutionized their treatment. In this review, I will discuss the most common autoinflammatory conditions of adulthood including familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency/hyperimmunoglobulinemia D Syndrome (MKD/HIDS), TNF receptor-associated autoinflammatory syndrome (TRAPS), and systemic juvenile idiopathic arthritis/adult-onset Still's disease (SJIA/AOSD). I will discuss how IL-1, IL-6, IL-18, and TNF play pathogenic roles in these conditions and will review the evidence behind cytokine blockade for these diseases. Throughout the paper, I will reflect on gaps in knowledge of autoinflammatory diseases and will highlight the latest advances and newest drugs in development.
自身炎症性疾病是一组罕见的疾病，其特征为反复发作的发热、全身炎症和先天免疫系统功能障碍。这些疾病的特点是各种细胞因子的过度产生或缺乏抑制，而阻断这些疾病中涉及的特定细胞因子的生物药物的出现已经彻底改变了它们的治疗方法。在这篇综述中，我将讨论成人中最常见的自身炎症性疾病，包括家族性地中海热（FMF）、冷吡啉相关周期性综合征（CAPS）、甲羟戊酸激酶缺乏/高免疫球蛋白 D 综合征（MKD/HIDS）、肿瘤坏死因子受体相关自身炎症性综合征（TRAPS）和全身幼年特发性关节炎/成人Still 病（SJIA/AOSD）。我将讨论白细胞介素-1（IL-1）、白细胞介素-6（IL-6）、白细胞介素-18（IL-18）和肿瘤坏死因子（TNF）在这些疾病中的致病作用，并回顾这些疾病的细胞因子阻断治疗的证据。在整篇文章中，我将反思自身炎症性疾病知识中的空白，并强调最新的进展和最新的研发药物。
