A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.

Autor: Ochoa S; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD 20892, USA., Kumar D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Chauss D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., van Hamburg JP; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., van Laar GG; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Oikonomou V; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Ganesan S; Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD 20892, USA., Ferré EMN; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Schmitt MM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., DiMaggio T; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Barber P; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Constantine GM; Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, MD 20892, USA., Rosen LB; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Auwaerter PG; Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Gandhi B; Division of Internal Medicine-Pediatrics, Department of Medicine, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Miller JL; Division of Pediatric Endocrinology, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Eisenberg R; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA., Rubinstein A; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.; Department of Microbiology and Immunology, Montefiore Medical Center, Bronx, NY 10467, USA., Schussler E; Division of Pulmonary, Allergy, and Immunology, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10065, USA., Balliu E; Department of Endocrinology, Diabetes and Metabolism, Lakeland Regional Health Grasslands Campus, Lakeland, FL 33803, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.; Undiagnosed Diseases Network, Duke University Medical Center, Durham, NC 27710, USA., Neth O; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain., Olbrich P; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Seville 41004, Spain., Le KM; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Mamia N; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Laakso S; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; Folkhälsan Research Center, Helsinki 00250, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland., Nevalainen PI; JJP Biologics, Warsaw 00-728, Poland., Grönholm J; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Seppänen MRJ; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; European Reference Network Rare Immunodeficiency Autoinflammatory and Autoimmune Diseases Network (ERN RITA) Core Center, Utrecht, 3584 CX, Netherlands., Boon L; JJP Biologics, Warsaw 00-728, Poland., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Franco LM; Functional Immunogenomics Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Winer KK; Pediatric Growth and Nutrition Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA., Ghosh R; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Seifert BA; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Walkiewicz M; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Zhou Q; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Askentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Gahl W; Medical Genetics Branch, National Human Genome Research Institute, and NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA., Dalgard CL; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.; American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA., Perera L; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA., Afzali B; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Tas SW; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Lionakis MS; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

Publikováno v: Science translational medicine [Sci Transl Med] 2024 Sep 18; Vol. 16 (765), pp. eadk0845. Date of Electronic Publication: 2024 Sep 18.

Long COVID Diagnostics: An Unconquered Challenge.

Autor: Antar AAR; Division of Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, Maryland., Auwaerter PG; The Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Publikováno v: Annals of internal medicine [Ann Intern Med] 2024 Sep; Vol. 177 (9), pp. 1279-1280. Date of Electronic Publication: 2024 Aug 13.

Recommendations for Updating Fever and Inflammation of Unknown Origin From a Modified Delphi Consensus Panel.

Autor: Wright WF; Division of Infectious Diseases, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stelmash L; Division of Infectious Diseases, Department of Medicine, Johns Hopkins Bayview Medical Center, Baltimore, Maryland, USA., Betrains A; General Internal Medicine department, University Hospitals Leuven, Leuven, Belgium., Mulders-Manders CM; Division of Infectious Diseases, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Rovers CP; Division of Infectious Diseases, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Vanderschueren S; General Internal Medicine Department, Department of Microbiology, Immunology, and Transplantation, Laboratory of Clinical Infectious and Inflammatory Disorders, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Auwaerter PG; The Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Publikováno v: Open forum infectious diseases [Open Forum Infect Dis] 2024 Jun 10; Vol. 11 (7), pp. ofae298. Date of Electronic Publication: 2024 Jun 10 (Print Publication: 2024).

Mapping the distribution of Lyme disease at a mid-Atlantic site in the United States using electronic health data.

Autor: Lantos PM; Duke University School of Medicine, Durham, NC, United States of America.; Duke Global Health Institute, Durham, NC, United States of America., Janko M; Duke Global Health Institute, Durham, NC, United States of America., Nigrovic LE; Boston Children's Hospital, Boston, MA, United States of America., Ruffin F; Duke University School of Medicine, Durham, NC, United States of America., Kobayashi T; University of Iowa Hospital and Clinics, Iowa City, IA, United States of America., Higgins Y; Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America., Auwaerter PG; Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.

Publikováno v: PloS one [PLoS One] 2024 May 31; Vol. 19 (5), pp. e0301530. Date of Electronic Publication: 2024 May 31 (Print Publication: 2024).

Development of a Consensus-Based List of Potential Quality Indicators for Fever and Inflammation of Unknown Origin.

Autor: Wright WF; Division of Infectious Diseases, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Betrains A; General Internal Medicine Department, University Hospitals Leuven, Leuven, Belgium., Stelmash L; Division of Infectious Diseases, Department of Medicine, Johns Hopkins Bayview Medical Center, Baltimore, Maryland, USA., Mulders-Manders CM; Division of Infectious Diseases, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Rovers CP; Division of Infectious Diseases, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Vanderschueren S; General Internal Medicine Department, University Hospitals Leuven, KU Leuven, Leuven, Belgium.; Department of Microbiology, Immunology, and Transplantation, Laboratory of Clinical Infectious and Inflammatory Disorders, KU Leuven, Leuven, Belgium., Auwaerter PG; Division of Infectious Diseases, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; The Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

Publikováno v: Open forum infectious diseases [Open Forum Infect Dis] 2024 Jan 11; Vol. 11 (2), pp. ofad671. Date of Electronic Publication: 2024 Jan 11 (Print Publication: 2024).