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

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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
FullText Text:
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
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  Data: <searchLink fieldCode="AU" term="%22Kostel+Bal+S%22">Kostel Bal S</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Giuliani+S%22">Giuliani S</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Block+J%22">Block J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Repiscak+P%22">Repiscak P</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Hafemeister+C%22">Hafemeister C</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Shahin+T%22">Shahin T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kasap+N%22">Kasap N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ransmayr+B%22">Ransmayr B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Miao+Y%22">Miao Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22van+de+Wetering+C%22">van de Wetering C</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Frohne+A%22">Frohne A</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Jimenez+Heredia+R%22">Jimenez Heredia R</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Schuster+M%22">Schuster M</searchLink>; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Zoghi+S%22">Zoghi S</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Hertlein+V%22">Hertlein V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Thian+M%22">Thian M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bykov+A%22">Bykov A</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Babayeva+R%22">Babayeva R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bilgic+Eltan+S%22">Bilgic Eltan S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Karakoc-Aydiner+E%22">Karakoc-Aydiner E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Shaw+LE%22">Shaw LE</searchLink>; Department of Dermatology, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Chowdhury+I%22">Chowdhury I</searchLink>; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Varjosalo+M%22">Varjosalo M</searchLink>; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Argüello+RJ%22">Argüello RJ</searchLink>; Aix Marseille University, CNRS, INSERM, CIML, Centre d'Immunologie de Marseille-Luminy, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Farlik+M%22">Farlik M</searchLink>; Department of Dermatology, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Ozen+A%22">Ozen A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Serfling+E%22">Serfling E</searchLink>; Department of Molecular Pathology, Institute of Pathology, and Comprehensive Cancer Center Mainfranken, University of Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Dupré+L%22">Dupré L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bock+C%22">Bock C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Halbritter+F%22">Halbritter F</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Hannich+JT%22">Hannich JT</searchLink>; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Castanon+I%22">Castanon I</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Kraakman+MJ%22">Kraakman MJ</searchLink>; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Baris+S%22">Baris S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Boztug+K%22">Boztug K</searchLink>; 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.
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