期刊
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
卷 34, 期 4, 页码 -出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.berh.2020.101529
关键词
Autoinflammation; Systemic autoinflammatory diseases; Familial mediterranean fever; MEFV; Colchicine; Next-generation sequencing
类别
Systemic autoinflammatory diseases (SAIDs) are defined as disorders of innate immunity. They were initially defined in opposition to autoimmune diseases due to the lack of involvement of the adaptive immune system and circulating autoantibodies. The four historical monogenic diseases are familial Mediterranean fever (associated with MEFV mutations), cryopyrinopathies (NLRP3 mutations), tumor necrosis factor receptor-associated periodic syndrome (TNFRSF1A mutations), and mevalonate kinase deficiency (MVK mutations). In the last 10 years, more than 50 new monogenic SAIDs have been discovered thanks to advances in genetics. Diagnosis is largely based on personal and family history and detailed analysis of signs and symptoms associated with febrile attacks, in the setting of elevated inflammatory markers. Increasingly efficient techniques of genetic analysis can contribute to refining the diagnosis. This review is a guide for the clinician in suspecting and establishing a diagnosis of SAID. (C) 2020 Published by Elsevier Ltd.
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