Autoinflammatory disease (AID) is a vast spectrum of disorders characterized by recurrent attacks of sterile inflammation. Since the first cloning of the familial Mediterranean fever gene in 1997, there has been a rapid rate of discovery of new AIDs. As of 2022, there have been 485 inborn errors of immunity documented by the International Union of Immunological Societies, for which many display aspects of autoinflammation. The pathophysiology of AIDs is complex. Although many are caused by rare mutations in genes that govern innate immunity, others are polygenic, where disease expression is thought to be triggered by environmental factors in genetically predisposed hosts. AIDs range in prevalence from common entities like gout to ultrarare monogenic diseases. Whereas AIDs were initially studied in pediatric populations, it is now apparent that they can present in adulthood and even in the elderly. AIDs can be clinically challenging given their rarity, as well as the heterogeneity in presentation and underlying etiology. Although the care of AIDs can span medical disciplines, the rheumatologist often plays a central role given the inflammatory nature of these illnesses. In this review, we explore the current understanding of the pathophysiology of these complex conditions and propose a classification system for AIDs. We place an emphasis on AIDs that present to the adult rheumatologist and discuss important AIDs that can mimic more classic rheumatic diseases such as systemic lupus erythematosus and inflammatory arthritis. Finally, we offer an approach to the clinical assessment, diagnosis, and management of AIDs.

Jason An

Ashish Marwaha

Ronald M. Laxer

The Journal of Rheumatology

《风湿病学杂志》是由 EARL D. SILVERMAN 编辑的国际月刊。该杂志收录了来自风湿病学和相关领域的科学家关于临床主题的研究文章，以及会议记录作为常规问题的补充。我们为风湿病学服务 41 年的亮点包括：开创性和挑衅性的社论，例如“倒金字塔”、著名的儿科风湿病学、OMERACT 和加拿大风湿病学协会的会议记录、COCHRANE 肌肉骨骼评论以及新兴疗法的补充。

The Journal of Rheumatology is an international monthly journal edited by EARL D. SILVERMAN. It publishes research articles on clinical topics from scientists in rheumatology and related fields, along with regular supplements of conference proceedings. Highlights of our 41 years of service to rheumatology include groundbreaking and thought-provoking editorials, such as 'The Inverted Pyramid', notable pediatric rheumatology, OMERACT and Canadian Rheumatology Association conference proceedings, COCHRANE musculoskeletal reviews, and supplements on emerging therapies.

《风湿病学杂志》是由EARL D. SILVERMAN编辑的国际月刊。该杂志发表来自风湿病学及相关领域的科学家们关于临床主题的研究文章，并定期补充会议记录。我们为风湿病学服务41年的亮点包括：开创性和引人深思的社论，如“倒金字塔”、著名的儿科风湿病学、OMERACT和加拿大风湿病学协会的会议记录、COCHRANE肌肉骨骼评论以及新兴疗法的补充。

Journal of Rheumatology

Autoinflammatory Diseases – A Review

An emphasis on AIDs that present to the adult rheumatologist and discuss important AIDs that can mimic more classic rheumatologic diseases such as systemic lupus and inflammatory arthritis are discussed.

Category	Quartile
医学	2
医学, 风湿病学	3

Autoinflammatory Diseases – A Review

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