Article
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Nature genetics - 1 Jun 2015
Watkin Levi B, Jessen Birthe, Wiszniewski Wojciech, Vece Timothy J, Jan Max, Sha Youbao, Thamsen Maike, Santos-Cortez Regie L P, Lee Kwanghyuk, Gambin Tomasz, Forbes Lisa R, Law Christopher S, Stray-Pedersen Asbjørg, Cheng Mickie H, Mace Emily M, Anderson Mark S, Liu Dongfang, Tang Ling Fung, Nicholas Sarah K, Nahmod Karen, Makedonas George, Canter Debra L, Kwok Pui-Yan, Hicks John, Jones Kirk D, Penney Samantha, Jhangiani Shalini N, Rosenblum Michael D, Dell Sharon D, Waterfield Michael R, Papa Feroz R, Muzny Donna M, Zaitlen Noah, Leal Suzanne M, Gonzaga-Jauregui Claudia, Boerwinkle Eric, Eissa N Tony, Gibbs Richard A, Lupski James R, Orange Jordan S, Shum Anthony K
Abstract excerpt
Unbiased genetic studies have uncovered surprising molecular mechanisms in human cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted sequencing in five families with an apparent mendelian syndrome of autoimmunity characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease. We identified four unique deleterious variants in the COPA gene...
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