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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.

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Title: Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Authors: Oftedal BE; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway., Assing K; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark., Baris S; Marmara University, Faculty of Medicine, Pediatric Allergy and Immunology, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey., Safgren SL; Center for Individualized Medicine, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Johansen IS; Department of Infectious Diseases, Odense University Hospital, Odense, Denmark., Jakobsen MA; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Agre K; Invitae, San Francisco, CA, USA., Klee EW; Mayo Clinic, Department of Quantitative Health Sciences, Rochester, MN, USA., Majcic E; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway., Ferré EMN; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA., Schmitt MM; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA., DiMaggio T; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA., Rosen LB; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA., Rahman MO; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway., Chrysis D; Department of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece., Giannakopoulos A; Department of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece., Garcia MT; Pediatric Hematology and Oncology Department, Hospital Álvaro Cunqueiro, Vigo, Spain., González-Granado LI; Unidad de Inmunodeficiencias, Pediatría, Instituto de Investigación Hospital 12 de Octubre, Facultad de Medicina, Universidad Complutense, Madrid, Spain., Stanley K; Mid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA., Galant-Swafford J; Division of Allergy & Clinical Immunology, National Jewish Health, Denver, CO, USA., Suwannarat P; Mid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA., Meyts I; Department of Pediatrics, University Hospital Leuven, Laboratory for Inborn Errors of Immunity, Department of Microbiology Immunology and Transplantation, KU Leuven, Leuven, Belgium., Lionakis MS; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA., Husebye ES; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Source: IScience [iScience] 2023 May 05; Vol. 26 (6), pp. 106818. Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE
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  Data: Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Oftedal+BE%22">Oftedal BE</searchLink>; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Assing+K%22">Assing K</searchLink>; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Baris+S%22">Baris S</searchLink>; Marmara University, Faculty of Medicine, Pediatric Allergy and Immunology, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Safgren+SL%22">Safgren SL</searchLink>; Center for Individualized Medicine, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Johansen+IS%22">Johansen IS</searchLink>; Department of Infectious Diseases, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Jakobsen+MA%22">Jakobsen MA</searchLink>; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Babovic-Vuksanovic+D%22">Babovic-Vuksanovic D</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Agre+K%22">Agre K</searchLink>; Invitae, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Mayo Clinic, Department of Quantitative Health Sciences, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Majcic+E%22">Majcic E</searchLink>; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Ferré+EMN%22">Ferré EMN</searchLink>; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Schmitt+MM%22">Schmitt MM</searchLink>; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22DiMaggio+T%22">DiMaggio T</searchLink>; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Rosen+LB%22">Rosen LB</searchLink>; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Rahman+MO%22">Rahman MO</searchLink>; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Chrysis+D%22">Chrysis D</searchLink>; Department of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece.<br /><searchLink fieldCode="AU" term="%22Giannakopoulos+A%22">Giannakopoulos A</searchLink>; Department of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece.<br /><searchLink fieldCode="AU" term="%22Garcia+MT%22">Garcia MT</searchLink>; Pediatric Hematology and Oncology Department, Hospital Álvaro Cunqueiro, Vigo, Spain.<br /><searchLink fieldCode="AU" term="%22González-Granado+LI%22">González-Granado LI</searchLink>; Unidad de Inmunodeficiencias, Pediatría, Instituto de Investigación Hospital 12 de Octubre, Facultad de Medicina, Universidad Complutense, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Stanley+K%22">Stanley K</searchLink>; Mid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA.<br /><searchLink fieldCode="AU" term="%22Galant-Swafford+J%22">Galant-Swafford J</searchLink>; Division of Allergy & Clinical Immunology, National Jewish Health, Denver, CO, USA.<br /><searchLink fieldCode="AU" term="%22Suwannarat+P%22">Suwannarat P</searchLink>; Mid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA.<br /><searchLink fieldCode="AU" term="%22Meyts+I%22">Meyts I</searchLink>; Department of Pediatrics, University Hospital Leuven, Laboratory for Inborn Errors of Immunity, Department of Microbiology Immunology and Transplantation, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Lionakis+MS%22">Lionakis MS</searchLink>; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Husebye+ES%22">Husebye ES</searchLink>; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
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