Genome integrity is continuously challenged by the DNA damage that arises during normal cell metabolism. Biallelic mutations in the genes encoding the genome surveillance enzyme ribonuclease H2 (RNase H2) cause Aicardi-Goutières syndrome (AGS), a pediatric disorder that shares features with the autoimmune disease systemic lupus erythematosus (SLE). Here we determined that heterozygous parents of AGS patients exhibit an intermediate autoimmune phenotype and demonstrated a genetic association between rare
Claudia Günther, Barbara Kind, Martin A.M. Reijns, Nicole Berndt, Manuel Martinez-Bueno, Christine Wolf, Victoria Tüngler, Osvaldo Chara, Young Ae Lee, Norbert Hübner, Louise Bicknell, Sophia Blum, Claudia Krug, Franziska Schmidt, Stefanie Kretschmer, Sarah Koss, Katy R. Astell, Georgia Ramantani, Anja Bauerfeind, David L. Morris, Deborah S. Cunninghame Graham, Doryen Bubeck, Andrea Leitch, Stuart H. Ralston, Elizabeth A. Blackburn, Manfred Gahr, Torsten Witte, Timothy J. Vyse, Inga Melchers, Elisabeth Mangold, Markus M. Nöthen, Martin Aringer, Annegret Kuhn, Kirsten Lüthke, Leonore Unger, Annette Bley, Alice Lorenzi, John D. Isaacs, Dimitra Alexopoulou, Karsten Conrad, Andreas Dahl, Axel Roers, Marta E. Alarcon-Riquelme, Andrew P. Jackson, Min Ae Lee-Kirsch
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