Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.

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Bibliographic Details
Title: Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Authors: Kostel Bal S; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Giuliani S; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Block J; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Repiscak P; St. Anna Children's Cancer Research Institute, Vienna, Austria., Hafemeister C; St. Anna Children's Cancer Research Institute, Vienna, Austria., Shahin T; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Kasap N; Department of Pediatrics, Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Marmara University, Istanbul, Turkey., Ransmayr B; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Miao Y; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., van de Wetering C; St. Anna Children's Cancer Research Institute, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Frohne A; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Jimenez Heredia R; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Schuster M; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Zoghi S; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Hertlein V; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Thian M; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Bykov A; St. Anna Children's Cancer Research Institute, Vienna, Austria., Babayeva R; Department of Pediatrics, Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Marmara University, Istanbul, Turkey., Bilgic Eltan S; Department of Pediatrics, Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Marmara University, Istanbul, Turkey., Karakoc-Aydiner E; Department of Pediatrics, Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Marmara University, Istanbul, Turkey., Shaw LE; Department of Dermatology, Medical University of Vienna, Vienna, Austria., Chowdhury I; Institute of Biotechnology, University of Helsinki, Helsinki, Finland., Varjosalo M; Institute of Biotechnology, University of Helsinki, Helsinki, Finland., Argüello RJ; Aix Marseille University, CNRS, INSERM, CIML, Centre d'Immunologie de Marseille-Luminy, Marseille, France., Farlik M; Department of Dermatology, Medical University of Vienna, Vienna, Austria., Ozen A; Department of Pediatrics, Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Marmara University, Istanbul, Turkey., Serfling E; Department of Molecular Pathology, Institute of Pathology, and Comprehensive Cancer Center Mainfranken, University of Würzburg, Würzburg, Germany., Dupré L; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; Department of Dermatology, Medical University of Vienna, Vienna, Austria.; Toulouse Institute for Infectious and Inflammatory Diseases, INSERM, CNRS, Toulouse III Paul Sabatier University, Toulouse, France., Bock C; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Medical University of Vienna, Institute of Artificial Intelligence, Center for Medical Data Science, Vienna, Austria., Halbritter F; St. Anna Children's Cancer Research Institute, Vienna, Austria., Hannich JT; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Castanon I; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Kraakman MJ; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria., Baris S; Department of Pediatrics, Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Marmara University, Istanbul, Turkey., Boztug K; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; St. Anna Children's Hospital, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Source: Blood [Blood] 2023 Aug 31; Vol. 142 (9), pp. 827-845.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1528-0020
DOI:10.1182/blood.2022018303