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- W3035559600 endingPage "101529" @default.
- W3035559600 startingPage "101529" @default.
- W3035559600 abstract "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." @default.
- W3035559600 created "2020-06-19" @default.
- W3035559600 creator A5005692165 @default.
- W3035559600 creator A5026145345 @default.
- W3035559600 creator A5042775524 @default.
- W3035559600 creator A5048754799 @default.
- W3035559600 creator A5057542301 @default.
- W3035559600 creator A5074932825 @default.
- W3035559600 date "2020-08-01" @default.
- W3035559600 modified "2023-10-18" @default.
- W3035559600 title "Systemic autoinflammatory diseases: Clinical state of the art" @default.
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