| Title: |
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency |
| Authors: |
Magg, Thomas; Okano, Tsubasa; Koenig, Lars M.; Boehmer, Daniel F.R.; Schwartz, Samantha L.; Inoue, Kento; Heimall, Jennifer; Licciardi, Francesco; Ley-Zaporozhan, Julia; Ferdman, Ronald M.; Caballero-Oteyza, Andrés; Park, Esther N.; Calderon, Brenda M.; Dey, Debayan; Kanegane, Hirokazu; Cho, Kazutoshi; Montin, Davide; Reiter, Karl; Griese, Matthias; Albert, Michael H.; Rohlfs, Meino; Gray, Paul; Walz, Christoph; Conn, Graeme L.; Sullivan, Kathleen E.; Klein, Christoph; Morio, Tomohiro; Hauck, Fabian |
| Contributors: |
National Institutes of Health; Cystic Fibrosis Foundation; Care-for-Rare Foundation; Deutsche Forschungsgemeinschaft; German Centre for Infection Research; German Federal Ministry of Education and Research; Else Kröner-Fresenius Stiftung; Friedrich-Baur-Stiftung; Japan Society for the Promotion of Science; JSPS Grant-in-Aid for Scientific Research; BMBF for the chILD-EU register and biobank project; Health and Labor Science Research Grant; European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases; ERA-Net for Research on Rare Diseases and the European Cooperation in Science and Technology; AMED Rare/Intractable Disease Project |
| Source: |
Science Immunology ; volume 6, issue 60 ; ISSN 2470-9468 |
| Publisher Information: |
American Association for the Advancement of Science (AAAS) |
| Publication Year: |
2021 |
| Description: |
OAS1-GOF/RNase L–mediated RNA cleavage caused an interferon-induced hyperinflammatory monocyte and B cell immunodeficiency. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1126/sciimmunol.abf9564 |
| Availability: |
https://doi.org/10.1126/sciimmunol.abf9564; https://syndication.highwire.org/content/doi/10.1126/sciimmunol.abf9564; https://www.science.org/doi/pdf/10.1126/sciimmunol.abf9564 |
| Accession Number: |
edsbas.66AF79E9 |
| Database: |
BASE |