ArticleThe Journal of experimental medicine2022
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
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Article in The Journal of experimental medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers.
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41citing papers in PubMed
4.4field-weighted citation impact, top 4% of its field
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Who cites it
41 citing papers in PubMed, 54 citations in OpenAlex.
- Highly neutralizing anti-IFN-ω autoantibodies underlie severe pediatric adenovirus infection.Journal of human immunity · 2026Article
- A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.American journal of human genetics · 2026Article
- Innate immunity: current understandings and future perspectives.Signal transduction and targeted therapy · 2026Review
- Mechanistic analysis of an IRF7-dependent pathway in virus-induced fibrosis in chronic lung allograft dysfunction.EBioMedicine · 2026Article
- Viral infection and brain inflammation with seizures in PARK7 deficiency.Journal of human immunity · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Article
- Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights.Life (Basel, Switzerland) · 2025Review
- Plasmacytoid dendritic cells are dispensable or detrimental in murine systemic or respiratory viral infections.Nature immunology · 2025Article
- The potential impacts of human genetics on virus emergence.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Alternatively spliced isoforms of IRF7 differentially regulate interferon expression to tune response to viral infection.Cell reports · 2025Article
- RACK1 promotes the development and function of alveolar macrophages through directly binding to and stabilizing PPARγ.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.The Journal of experimental medicine · 2025Article
- The intersection of influenza infection and autoimmunity.Frontiers in immunology · 2025Review
- Estimating the Number of Polygenic Diseases Among Six Mutually Exclusive Entities of Non-Tumors and Cancer.International journal of molecular sciences · 2024Review
- The multiple roles of interferon regulatory factor family in health and disease.Signal transduction and targeted therapy · 2024Review
- The role of plasmacytoid dendritic cells (pDCs) in immunity during viral infections and beyond.Cellular & molecular immunology · 2024Review
- Type I Interferon Autoantibodies Correlate With Cellular Immune Alterations in Severe COVID-19.The Journal of infectious diseases · 2024Article
- Article
- Innate Immunity in Protection and Pathogenesis During Coronavirus Infections and COVID-19.Annual review of immunology · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
37 authors at 14 institutions in 8 countries.
Tessa Mollie Campbell *Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-7737-2123
Zhiyong Liu *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0001-6473-348X
Qian Zhang *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0002-9040-3289
Marcela Moncada-VelezSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0002-3073-5345
Laura E CovillCenter for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-5086-9877
Peng ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0002-6129-567X
Ilad Alavi DarazamDepartment of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-4440-335X
Paul BastardSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0002-5926-8437
Lucy BizienLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-9163-9122
Giorgia BucciolDepartment of Microbiology, Immunology and Transplantation, Laboratory of Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.ORCID 0000-0001-5004-0738
Sara Lind EnokssonDepartment of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0002-0359-8824
Emmanuelle JouanguySt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.
Şemsi Nur KarabelaDepartment of Infectious Diseases and Clinical Microbiology, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.ORCID 0000-0002-7358-9157
Taushif KhanDepartment of Human Immunology, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-7917-8965
Yasemin Kendir-DemirkolSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0003-2562-3004
Andres Augusto AriasSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0002-9478-8403
Davood MansouriDepartment of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-0564-8282
Per MaritsDepartment of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0003-2439-5687
Nico MarrDepartment of Human Immunology, Research Branch, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
Isabelle MigeotteCentre de Génétique Humaine de l'Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.ORCID 0000-0002-8972-8211
Leen MoensDepartment of Microbiology, Immunology and Transplantation, Laboratory of Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.ORCID 0000-0002-5347-6526
Tayfun OzcelikDepartment of Molecular Biology and Genetics, Bilkent University, Bilkent-Ankara, Turkey.ORCID 0000-0001-5937-1082
Isabelle PellierUniversité d'Angers, INSERM, CNRS, CRCI2NA, Pediatric Immuno-Hemato-oncology Unit, CHU Angers, Angers, France.ORCID 0000-0002-7988-4712
Anton SendelDepartment of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0003-4410-3418
Sevtap Şenoğlu,
Mohammad ShahrooeiSpecialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.ORCID 0000-0002-4974-3441
C I Edvard SmithDepartment of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0003-1907-3392
Isabelle VandernootCentre de Génétique Humaine de l'Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.ORCID 0000-0001-8084-7858
Karen WillekensDepartment of Molecular Genetics, University Hospitals Leuven, Leuven, Belgium.ORCID 0000-0003-2338-5778
Kadriye Kart Yaşar
COVID Human Genetic Effort
Peter BergmanDepartment of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0003-3306-3713
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0001-7016-6493
Aurélie CobatSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0001-7209-6257
Jean-Laurent Casanova *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.ORCID 0000-0002-7782-4169
Isabelle Meyts *Department of Microbiology, Immunology and Transplantation, Laboratory of Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.ORCID 0000-0003-1214-0302
Yenan T Bryceson *Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-7783-9934
Karolinska University Hospital · SEInserm · FRHoward Hughes Medical Institute · USKU Leuven · BERockefeller University · USBakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi · TRBilkent University · TRMasih Daneshvari Hospital · IRSina Hospital · IRUniversidad de Antioquia · COKarolinska Institutet · SEUniversité Libre de Bruxelles · BECentre National de la Recherche Scientifique · FRShahid Beheshti University of Medical Sciences · IR
Funding
TRANSFORMING TRANSLATIONAL SCIENCE AND EDUCATION TO BENEFIT HUMAN HEALTHUL1RR024143 · NCRR · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2006 to 2011
$49.1MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MHost factors contributing to susceptibility to COVID-19 diseaseZIAAI001265 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2020 to 2025
$9.5MMonogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7MNHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9MInborn errors of immunity in patients with life-threatening COVID-19R01AI163029 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, ZHANG, QIAN · 2021 to 2025
$3.7MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kHoward Hughes Medical InstituteMedical Research Council MR/S032304/1NCATS NIH HHS UL1 TR001866NCRR NIH HHS UL1 RR024143NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI163029NIH HHS S10 OD018521
Abstract
Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2-specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity.
Indexed as
COVID-19Influenza, HumanVirus DiseasesVirusesAdultHumansSARS-CoV-2
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