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Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
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.
Afiliación
  • Magg T; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Okano T; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
  • Koenig LM; Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Boehmer DFR; Division of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Schwartz SL; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.
  • Inoue K; Graduate Program in Biochemistry, Cell and Developmental Biology, Graduate Division of Biological and Biomedical Sciences, Emory University, Atlanta, GA, USA.
  • Heimall J; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
  • Licciardi F; Department of Allergy Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ley-Zaporozhan J; Department of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
  • Ferdman RM; Department of Radiology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Caballero-Oteyza A; Division of Clinical Immunology and Allergy, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Park EN; Centre for Chronic Immunodeficiency (CCI) and Institute for Immunodeficiency (IFI), University Hospital Freiburg, Freiburg, Germany.
  • Calderon BM; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.
  • Dey D; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.
  • Kanegane H; Graduate Program in Biochemistry, Cell and Developmental Biology, Graduate Division of Biological and Biomedical Sciences, Emory University, Atlanta, GA, USA.
  • Cho K; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.
  • Montin D; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
  • Reiter K; Maternity and Perinatal Care Center, Hokkaido University Hospital, Hokkaido, Japan.
  • Griese M; Department of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
  • Albert MH; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Rohlfs M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Gray P; German Center for Lung Research (DZL), Munich, Germany.
  • Walz C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Conn GL; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Sullivan KE; Department of Immunology and Infectious Disease, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Klein C; Institute of Pathology, Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Morio T; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.
  • Hauck F; Graduate Program in Biochemistry, Cell and Developmental Biology, Graduate Division of Biological and Biomedical Sciences, Emory University, Atlanta, GA, USA.
Sci Immunol ; 6(60)2021 06 18.
Article en En | MEDLINE | ID: mdl-34145065
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: 2',5'-Oligoadenilato Sintetasa / Enfermedades Autoinflamatorias Hereditarias / Enfermedades de Inmunodeficiencia Primaria Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Idioma: En Revista: Sci Immunol Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: 2',5'-Oligoadenilato Sintetasa / Enfermedades Autoinflamatorias Hereditarias / Enfermedades de Inmunodeficiencia Primaria Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Idioma: En Revista: Sci Immunol Año: 2021 Tipo del documento: Article País de afiliación: Alemania