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

Autor: 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.

Publikováno v: IScience [iScience] 2023 May 05; Vol. 26 (6), pp. 106818. Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).

Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes.

Autor: Cudini, Annamaria¹ (AUTHOR) annamaria.cudini@opbg.net, Nardella, Caterina¹ (AUTHOR) caterina.nardella@opbg.net, Bellacchio, Emanuele² (AUTHOR) emanuele.bellacchio@opbg.net, Palma, Alessia¹ (AUTHOR) alessia.palma@opbg.net, Delfino, Domenico Vittorio³ (AUTHOR) domenico.delfino@unipg.it, Betterle, Corrado⁴ (AUTHOR) corrado.betterle@unipd.it, Cappa, Marco⁵ (AUTHOR) marco.cappa@opbg.net, Fierabracci, Alessandra¹ (AUTHOR) alessandra.fierabracci@opbg.net

Publikováno v: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 5, p2656. 15p.