期刊
NATURE REVIEWS RHEUMATOLOGY
卷 18, 期 8, 页码 448-463出版社
NATURE PORTFOLIO
DOI: 10.1038/s41584-022-00797-1
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资金
- American Academy of Allergy, Asthma and Immunology Foundation
- NIH National Institute of Diabetes and Digestive and Kidney Diseases [R01 DK113592-01, R01 HL140898, RO1 AI15586901]
This review summarizes the pathophysiological mechanisms of IL-1-mediated autoinflammation, describes the epidemiological and clinical features of autoinflammatory diseases, and discusses the challenges associated with diagnosis and treatment.
Over 20 years ago, it was first proposed that autoinflammation underpins a handful of rare monogenic disorders characterized by recurrent fever and systemic inflammation. The subsequent identification of novel, causative genes directly led to a better understanding of how the innate immune system is regulated under normal conditions, as well as its dysregulation associated with pathogenic mutations. Early on, IL-1 emerged as a central mediator for these diseases, based on data derived from patient cells, mutant mouse models and definitive clinical responses to IL-1 targeted therapy. Since that time, our understanding of the mechanisms of autoinflammation has expanded beyond IL-1 to additional innate immune processes. However, the number and complexity of IL-1-mediated autoinflammatory diseases has also multiplied to include additional monogenic syndromes with expanded genotypes and phenotypes, as well as more common polygenic disorders seen frequently by the practising clinician. In order to increase physician awareness and update rheumatologists who are likely to encounter these patients, this review discusses the general pathophysiological concepts of IL-1-mediated autoinflammation, the epidemiological and clinical features of specific diseases, diagnostic challenges and approaches, and current and future perspectives for therapy. In this Review, the authors summarize the pathophysiological mechanisms of IL-1-mediated autoinflammation. They describe the epidemiological and clinical features of autoinflammatory diseases, challenges associated with diagnostics and disease management, and current and future therapies for targeting the IL-1 pathway.
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