Article
Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma.
Nature medicine - 1 Feb 2018
Wen Haijun, Ma Huajuan, Cai Qichun, Lin Suxia, Lei Xinxing, He Bin, Wu Sijin, Wang Zifeng, Gao Yan, Liu Wensheng, Liu Weiping, Tao Qian, Long Zijie, Yan Min, Li Dali, Kelley Keith W, Yang Yongliang, Huang Huiqiang, Liu Quentin
Abstract excerpt
Hemophagocytic syndrome (HPS) is a fatal hyperinflammatory disease with a poorly understood mechanism that occurs most frequently in extranodal natural killer/T cell lymphoma (ENKTL). Through exome sequencing of ENKTL tumor-normal samples, we have identified a hotspot mutation (c.419T>C) in the evolutionarily conserved signaling intermediate in Toll pathway (ECSIT) gene, encoding a V140A variant of ECSIT....
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