Publication
Heterozygous
OAS1
gain-of-function variants cause an autoinflammatory immunodeficiency
Thomas Magg, Tsubasa Okano, Lars M. Koenig, Daniel F.R. Boehmer, Samantha L. Schwartz, Kento Inoue, Jennifer Heimall, Francesco Licciardi, Julia Ley-Zaporozhan, Ronald M. Ferdman, Andrés Caballero-Oteyza, Esther N. Park, Brenda M. Calderon, Debayan Dey, Hirokazu Kanegane, Kazutoshi Cho, Davide Montin, Karl Reiter, Matthias Griese, Michael H. Albert, Meino Rohlfs, Paul Gray, Christoph Walz, Graeme L. Conn, Kathleen E. Sullivan, Christoph Klein, Tomohiro Morio, Fabian Hauck
Science Immunology, June 2021, American Association for the Advancement of Science
DOI: 10.1126/sciimmunol.abf9564