Article
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Nature immunology - 1 May 2016
Starokadomskyy Petro, Gemelli Terry, Rios Jonathan J, Xing Chao, Wang Richard C, Li Haiying, Pokatayev Vladislav, Dozmorov Igor, Khan Shaheen, Miyata Naoteru, Fraile Guadalupe, Raj Prithvi, Xu Zhe, Xu Zigang, Ma Lin, Lin Zhimiao, Wang Huijun, Yang Yong, Ben-Amitai Dan, Orenstein Naama, Mussaffi Huda, Baselga Eulalia, Tadini Gianluca, Grunebaum Eyal, Sarajlija Adrijan, Krzewski Konrad, Wakeland Edward K, Yan Nan, de la Morena Maria Teresa, Zinn Andrew R, Burstein Ezra
Abstract excerpt
Aberrant nucleic acids generated during viral replication are the main trigger for antiviral immunity, and mutations that disrupt nucleic acid metabolism can lead to autoinflammatory disorders. Here we investigated the etiology of X-linked reticulate pigmentary disorder (XLPDR), a primary immunodeficiency with autoinflammatory features. We discovered that XLPDR is caused by an intronic mutation that disrupts the...
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