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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Oftedal, Bergithe E; Assing, Kristian; Baris, Safa; Safgren, Stephanie L; Johansen, Isik S; Jakobsen, Marianne Antonius; Babovic-Vuksanovic, Dusica; Agre, Katherine; Klee, Eric W; Majcic, Emina; Ferré, Elise M N; Schmitt, Monica M; DiMaggio, Tom; Rosen, Lindsey B; Rahman, Muhammad Obaidur; Chrysis, Dionisios; Giannakopoulos, Aristeidis; Garcia, Maria Tallon; González-Granado, Luis Ignacio; Stanley, Katherine; Galant-Swafford, Jessica; Suwannarat, Pim; Meyts, Isabelle; Lionakis, Michail S; Husebye, Eystein S.
Afiliação
  • 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.
  • Safgren SL; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.
  • Johansen IS; Center for Individualized Medicine, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
  • Jakobsen MA; Department of Infectious Diseases, Odense University Hospital, Odense, Denmark.
  • Babovic-Vuksanovic D; Department of Clinical Immunology, Odense University Hospital, Odense, Denmark.
  • Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Klee EW; Invitae, San Francisco, CA, USA.
  • Majcic E; Mayo Clinic, Department of Quantitative Health Sciences, Rochester, MN, USA.
  • Ferré EMN; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
  • 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; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
  • Chrysis D; Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
  • Giannakopoulos A; Department of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece.
  • Garcia MT; Department of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece.
  • González-Granado LI; Pediatric Hematology and Oncology Department, Hospital Álvaro Cunqueiro, Vigo, Spain.
  • Stanley K; Unidad de Inmunodeficiencias, Pediatría, Instituto de Investigación Hospital 12 de Octubre, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
  • Galant-Swafford J; Mid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA.
  • Suwannarat P; Division of Allergy & Clinical Immunology, National Jewish Health, Denver, CO, USA.
  • Meyts I; Mid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA.
  • Lionakis MS; Department of Pediatrics, University Hospital Leuven, Laboratory for Inborn Errors of Immunity, Department of Microbiology Immunology and Transplantation, KU Leuven, Leuven, Belgium.
  • Husebye ES; Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.
iScience ; 26(6): 106818, 2023 Jun 16.
Article em En | MEDLINE | ID: mdl-37235056
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article