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• W2098907544 endingPage "1939" @default.
• W2098907544 startingPage "1927" @default.
• W2098907544 abstract "During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Diagnosis remains clinical, with genetic confirmation where feasible. Although a group of patients exhibit episodic systemic inflammation (periodic fevers), these disorders are mediated by continuous overproduction and release of pro-inflammatory mediators, such as IL-1 and IL-6, and TNF and are best considered as autoinflammatory diseases rather than periodic fevers. Treatment with biologic agents that block these cytokines, particularly IL-1, has proved to be dramatically effective in some patients. Still, in many cases of autoinflammation no genetic abnormalities are detected and treatment remains suboptimal, raising the question of novel pathogenic mutations in unexplored genes and pathways." @default.
• W2098907544 created "2016-06-24" @default.
• W2098907544 creator A5059983393 @default.
• W2098907544 creator A5082765697 @default.
• W2098907544 date "2014-05-15" @default.
• W2098907544 modified "2023-09-27" @default.
• W2098907544 title "Monogenic autoinflammatory diseases" @default.
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