期刊
AUTOIMMUNITY REVIEWS
卷 20, 期 4, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.autrev.2021.102774
关键词
Autoinflammation; Autoinflammatory disease; SAID; Innate immune system; Innate immunity
类别
资金
- FWO [1805518N]
- KU Leuven C1 [C12/16/024]
- VIB Grand Challenge program (Translational science initiative on PID) [GC01-C01]
- Fonds Wetenschappelijk Onderzoek Vlaanderen National Fund for Scientific Research (FWO) [11B5520N]
Systemic autoinflammatory disorders are rare conditions caused by dysfunction of the innate immune system, presenting with various symptoms. While diagnosis is typically made in childhood, more adult patients are now being recognized with these disorders, with diagnosis often relying on clinical presentation and familiarity with rare disease features.
Systemic autoinflammatory disorders comprise an expanding group of rare conditions. They are mediated by dysfunction of the innate immune system and share a core of phenotypic manifestations including recurrent attacks of fever, cutaneous signs, chest or abdominal pain, lymphadenopathy, vasculopathy, and musculoskeletal symptoms. Diagnosis is often established in childhood, but a growing number of adult patients are being recognized with systemic autoinflammatory disorders, including adult-onset disease. In this review, we provide a concise update on the pathophysiology, clinical presentation, and diagnostic approach of systemic autoinflammatory disorders with an emphasis on the adult patient population. Despite the recent advances in genetic testing, the diagnosis of autoinflammatory disease in adult patients is often based on a thorough knowledge of the clinical phenotype. Becoming acquainted with the clinical features of these rare disorders may assist in developing a high index of suspicion for autoinflammatory disease in patients presenting with unexplained episodes of fever or inflammation.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据