Monogenic Autoinflammatory Diseases: Disorders of Amplified Danger Sensing and Cytokine Dysregulation
Monogenic Autoinflammatory Diseases: Disorders of Amplified Danger Sensing and Cytokine Dysregulation
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DOI：
10.1016/j.rdc.2013.08.001
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发表时间：
2013-11-01
影响因子：
2.3
通讯作者：
Goldbach-Mansky, Raphaela
中科院分区：
文献类型：
--
作者：
Sanchez, Gina A. Montealegre;de Jesus, Adriana Almeida;Goldbach-Mansky, Raphaela
单基因自身炎性疾病的发病机制集中于存在夸大的免疫应答，所述免疫应答通过改变的模式识别受体（PRR）途径的激活而触发，并导致细胞因子/趋化因子扩增环和在自身炎性患者中观察到的炎性临床表型。PAR反应可以由代谢物的积累、由导致其组成性过度活化的传感器中的突变、或由导致造血和/或非造血细胞中的炎症反应扩增和/或不能下调的介体细胞因子途径中的突变触发。对自身炎症综合征患者无菌性炎症发病机制的研究继续揭示新的炎症途径。
The pathogenesis of monogenic autoinflammatory diseases converges on the presence of exaggerated immune responses that are triggered through activation of altered pattern recognition receptor (PRR) pathways and result in cytokine/chemokine amplification loops and the inflammatory clinical phenotype seen in autoinflammatory patients. The PAR response can be triggered by accumulation of metabolites, by mutations in sensors leading to their constitutive overactivation, or by mutations in mediator cytokine pathways that lead to amplification and/or inability to downregulate an inflammatory response in hematopoietic and/or nonhematopoietic cells. The study of the pathogenesis of sterile inflammation in patients with autoinflammatory syndromes continues to uncover novel inflammatory pathways.