Heterozygous gain-of-function variants cause an autoinflammatory immunodeficiency.
Brenda M Calderon, Paul Gray, Meino Rohlfs, Michael H Albert, Matthias Griese, Karl Reiter, Davide Montin, Kazutoshi Cho, Hirokazu Kanegane, Debayan Dey, Christoph Walz, Esther N Park, Andrés Caballero-Oteyza, Ronald M Ferdman, Julia Ley-Zaporozhan, Francesco Licciardi, Jennifer Heimall, Kento Inoue, Samantha L Schwartz, Daniel F R Boehmer, Fabian Hauck, Tomohiro Morio, Christoph Klein, Kathleen E Sullivan, Graeme L Conn, Tsubasa Okano, Lars M Koenig, Thomas Magg
Science immunology 2022;6(60):eabf9564