ArticleThe Journal of experimental medicine2022
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
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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. Cited by 75 papers.
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75 citing papers in PubMed, 114 citations in OpenAlex.
- High prevalence of autoantibodies neutralizing type I IFNs in Japanese patients with hepatitis C.Journal of human immunity · 2026Article
- Two novel kindreds with autosomal recessive STAT2 deficiency.Journal of human immunity · 2026Article
- Identification and functional characterization of regulatory variants in DPP9 associated with COVID-19 severity.Genome medicine · 2026Article
- Characteristics of Mycobacterial, COVID-19, and Talaromyces Marneffei Infections in Patients with IL12RB1 and IFNGR1 Mutations in Western China.Journal of clinical immunology · 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
- The seven enigmas of SARS-CoV-2: from the past to the future.Journal of human immunity · 2025Article
- Plasmacytoid dendritic cells are dispensable or detrimental in murine systemic or respiratory viral infections.Nature immunology · 2025Article
- Type I IFNs Decrease SARS-CoV-2 Replication in Human Cardiomyocytes and Increase Cytokine Production in Macrophages.Journal of clinical immunology · 2025Article
- The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer.Nature immunology · 2025Review
- Type I interferon autoantibody footprints reveal neutralizing mechanisms and allow inhibitory decoy design.The Journal of experimental medicine · 2025Article
- Association Between Genetic Variants inDiagnostics (Basel, Switzerland) · 2025Article
- From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.Journal of clinical immunology · 2025Article
- Human coronaviruses: activation and antagonism of innate immune responses.Microbiology and molecular biology reviews : MMBR · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- 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
- Human DBR1 deficiency impairs stress granule-dependent PKR antiviral immunity.The Journal of experimental medicine · 2025Article
- JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.Frontiers in immunology · 2025Review
- Modulation ofFrontiers in immunology · 2025Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
47 authors at 20 institutions in 8 countries.
Qian Zhang *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-9040-3289
Daniela Matuozzo *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0001-9514-3837
Jérémie Le Pen *Laboratory of Virology and Infectious Diseases, The Rockefeller University, New York, NY.ORCID 0000-0001-7025-9526
Danyel LeeSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0003-3124-0245
Leen MoensLaboratory of Virology and Infectious Diseases, The Rockefeller University, New York, NY.ORCID 0000-0002-5347-6526
Takaki AsanoSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0003-1424-2433
Jonathan BohlenLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0003-0458-9484
Zhiyong LiuSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0001-6473-348X
Marcela Moncada-VelezSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-3073-5345
Yasemin Kendir-DemirkolSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0001-8016-5224
Huie JingLaboratory of Clinical Immunology and Microbiology, Intramural Research Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID 0000-0001-6283-3452
Lucy BizienLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0001-9163-9122
Astrid MarchalLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0003-0648-8126
Hassan AbolhassaniDepartment of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.ORCID 0000-0002-4838-0407
Selket DelafontaineLaboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.ORCID 0000-0002-8985-8155
Giorgia BucciolLaboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.ORCID 0000-0001-5004-0738
COVID Human Genetic Effort
Gulsum Ical BayhanYildirim Beyazit University, Ankara City Hospital, Ankara, Turkey.ORCID 0000-0002-1423-4348
Sevgi KelesNecmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.ORCID 0000-0001-7344-8947
Ayca KiykimIstanbul University-Cerrahpasa, Pediatric Allergy and Immunology, Istanbul, Turkey.ORCID 0000-0001-5821-3963
Selda HancerliDepartment of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.ORCID 0000-0002-3216-2413
Filomeen HaerynckDepartment of Pediatric Immunology and Pulmonology, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, PID Research Laboratory, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.ORCID 0000-0001-9161-7361
Benoit FlorkinDepartment of Pediatrics, Hôpital de la Citadelle, Liége, Belgium.ORCID 0000-0001-7318-8348
Nevin HatipogluPediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.ORCID 0000-0003-2858-0150
Tayfun OzcelikDepartment of Molecular Biology and Genetics, Bilkent University, Bilkent-Ankara, Turkey.ORCID 0000-0001-5937-1082
Guillaume MorelleDepartment of General Pediatrics, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France.ORCID 0000-0001-6511-1674
Mayana ZatzBiosciences Institute, University of São Paulo, São Paulo, Brazil.ORCID 0000-0003-3970-8025
Lisa F P NgA*STAR Infectious Diseases Labs (A*STAR ID Labs), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.ORCID 0000-0003-4071-5222
David Chien LyeNational Centre for Infectious Diseases, Singapore, Singapore.ORCID 0000-0003-0324-0205
Barnaby Edward YoungNational Centre for Infectious Diseases, Singapore, Singapore.ORCID 0000-0003-1010-2230
Yee-Sin LeoNational Centre for Infectious Diseases, Singapore, Singapore.ORCID 0000-0003-4978-5825
Clifton L DalgardThe American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD.ORCID 0000-0003-2025-8239
Richard P LiftonLaboratory of Genetics and Genomics, The Rockefeller University, New York, NY.ORCID 0000-0002-5745-5984
Laurent ReniaA*STAR Infectious Diseases Labs (A*STAR ID Labs), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.ORCID 0000-0003-0349-1557
Isabelle MeytsLaboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.ORCID 0000-0003-1214-0302
Emmanuelle JouanguySt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-7358-9157
Lennart HammarströmDepartment of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.ORCID 0000-0002-8635-9609
Qiang Pan-Hammarström *Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.ORCID 0000-0003-1990-8804
Bertrand Boisson *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0001-5240-3555
Paul Bastard *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-5926-8437
Helen C Su *Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.ORCID 0000-0002-5582-9110
Stéphanie Boisson-Dupuis *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-7115-116X
Laurent Abel *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0001-7016-6493
Charles M Rice *Laboratory of Virology and Infectious Diseases, The Rockefeller University, New York, NY.ORCID 0000-0003-3087-8079
Shen-Ying Zhang *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-9449-3672
Aurélie Cobat *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0001-7209-6257
Jean-Laurent Casanova *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.ORCID 0000-0002-7782-4169
Inserm · FRKarolinska Institutet · SERockefeller University · USAgency for Science, Technology and Research · SGBilkent University · TRGhent University Hospital · BEHoward Hughes Medical Institute · USKU Leuven · BENational Institutes of Health · USNational University of Singapore · SGUniformed Services University of the Health Sciences · USAnkara Yıldırım Beyazıt University · TRBakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi · TRCentre hospitalier régional de la Citadelle · BEIstanbul University · TRIstanbul University-Cerrahpaşa · TRNecmettin Erbakan University · TRUniversidade de São Paulo · BRUniversité Paris Cité · FRUniversité Paris-Saclay · FR
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
$40.6MUnderstanding B cell memory in response to diverse virus infectionsU19AI111825 · NIAID · ROCKEFELLER UNIVERSITY · PI RAVETCH, JEFFREY VICTOR · 2014 to 2023
$26.0MYale 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
$8.7MVirology CoreP01AI138938 · NIAID · ROCKEFELLER UNIVERSITY · PI NUSSENZWEIG, MICHEL C · 2018 to 2022
$8.4MType I interferon-stimulated genes and the antiviral immune responseR01AI091707 · NIAID · ROCKEFELLER UNIVERSITY · PI RICE, CHARLES M · 2011 to 2020
$5.5MNHGRI 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
$3.7MTracking SARS-CoV-2 one molecule at a time: Spatiotemporal investigation of coronavirus replication dynamics and host response in single cells in vitro and in vivoR01AI161444 · NIAID · ROCKEFELLER UNIVERSITY · PI Charles M Rice · 2022 to 2026
$3.1MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kEuropean Research CouncilHoward 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 P01 AI138938NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI091707NIAID NIH HHS R01 AI161444NIAID NIH HHS R01 AI163029NIAID NIH HHS U19 AI111825NIH HHS S10 OD018521
Abstract
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (<16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5-13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity: X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 × 10-11) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie ∼10% of hospitalizations for COVID-19 pneumonia in children.
Indexed as
COVID-19Interferon Type IPneumoniaAdultChildHumansInheritance PatternsSARS-CoV-2Interferon Type I
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