Observational studyScience immunology2021
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Registry-linked trialOpen access · hybridAbstract readObservational Study
In one paragraph
Observational study in Science immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05582512 (Clinical Characteristics and Long Term Impact on Pediatric COVID-19 in Taiwan), which is not on this map. Cited by 260 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
260citing papers in PubMed, 4 pooled it
55.1field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical Characteristics and Long Term Impact on Pediatric COVID-19 in Taiwan
Who cites it
260 citing papers in PubMed, 4 syntheses or guidelines pooled it, 415 citations in OpenAlex.
- Meta-analysis of Transcriptomic Data from Lung Autopsy and Cellular Models of SARS-CoV-2 Infection.Biochemical genetics · 2024Pooled it
- Novel genes and sex differences in COVID-19 severity.Human molecular genetics · 2022Pooled it
- A genome-wide association study of survival in patients with sepsis.Critical care (London, England) · 2022Pooled it
- COVID-19 and the Immune Response: A Multi-Phasic Approach to the Treatment of COVID-19.International journal of molecular sciences · 2022Pooled it
- Enpatoran in COVID-19 pneumonia: Safety and efficacy results from a phase II randomized trial.Clinical and translational science · 2023Trial
- First-in-Human Study of the Safety, Pharmacokinetics, and Pharmacodynamics of MHV370, a Dual Inhibitor of Toll-Like Receptors 7 and 8, in Healthy Adults.European journal of drug metabolism and pharmacokinetics · 2023Trial
- IRF7 Protects Against Severe Influenza A Infection Independently of TLR7 Recognition in Mice.Viruses · 2026Article
- TLR7 in systemic lupus erythematosus: genetics and emerging therapies.Nature reviews. Rheumatology · 2026Review
- Human CD21Journal of human immunity · 2026Review
- DNA oligonucleotides block viral entry of SARS-CoV-2 Omicron variants.PLoS pathogens · 2026Article
- Immunopathogenesis and Cytokine Pathways in Reactive Infectious Mucocutaneous Eruption (RIME) in Pediatric Population: Infectious Triggers and Molecular Insights.Clinical reviews in allergy & immunology · 2026Review
- Article
- Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus.Journal of human immunity · 2026Article
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- 2'-O-Methyl-guanosine RNA fragments antagonize TLR7 and TLR8 to limit autoimmunity.Nature immunology · 2026Article
- Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- The emerging role of TLR7-mediated signaling in respiratory viral infections and autoimmune diseases.Cellular and molecular life sciences : CMLS · 2026Review
- Autoantibodies neutralizing type I IFNs in patients with fulminant herpes simplex virus hepatitis.The Journal of experimental medicine · 2026Article
- Novel TLR7 gain-of-function variant and review of the associated disease spectrum.Journal of human immunity · 2026Article
- Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON).Human genomics · 2026Article
200 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
116 authors at 20 institutions in 11 countries.
Takaki Asano *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Bertrand Boisson *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.
Fanny Onodi *Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France.
Daniela Matuozzo *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Marcela Moncada-Velez *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Majistor Raj Luxman Maglorius Renkilaraj *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Peng Zhang *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Laurent Meertens *Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France.
Alexandre Bolze *Helix, San Mateo, CA, USA.
Marie Materna *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Sarantis KorniotisUniversity of Paris, INSERM U976, F-75006 Paris, France.
Adrian GervaisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Estelle TalouarnLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Benedetta BigioSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Yoann SeeleuthnerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Kaya BilguvarYale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Yu ZhangLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Masato OgishiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Simon J PelhamSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Quentin PhilippotLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Pere Soler-PalacínInfection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.
Roger ColobranJeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.
Andrea Martin-NaldaInfection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.
Jacques G RivièreInfection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.
Yacine Tandjaoui-LambiotteAP-HP, Avicenne Hospital, Intensive Care Unit, Bobigny, France.
Khalil ChaïbiAnesthesiology and Critical Care Medicine Department, APHP, Avicenne Hospital, Bobigny, France.
Mohammad ShahrooeiSpecialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.
Ilad Alavi DarazamInfectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Nasrin Alipour OlyaeiSpecialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.
Davood MansouriDepartment of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Nevin HatipoğluPediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Figen PalabiyikPediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Tayfun OzcelikDepartment of Molecular Biology and Genetics, University of Bilkent, Bilkent-Ankara, Turkey.
Giuseppe NovelliDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata," Rome, and Neuromed Institute, IRCCS, Pozzilli (IS), Italy.
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
Giorgio CasariVita-Salute San Raffaele University, Milan, Italy.
Alessandro AiutiVita-Salute San Raffaele University, Milan, Italy.
Paola CarreraClinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Simone BondesanClinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Federica BarzaghiSan Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Patrizia Rovere-QueriniVita-Salute San Raffaele University, Milan, Italy.
Cristina TresoldiMolecular Hematology Unit, IRCCS Ospedale San Raffaele, Milan, Italy.
Jose Luis FrancoPrimary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
Julian RojasPrimary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
Luis Felipe ReyesUniversidad de La Sabana, Chia, Colombia.
Ingrid G BustosUniversidad de La Sabana, Chia, Colombia.
Andres Augusto AriasSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Guillaume MorelleDepartment of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France.
Kyheng ChristèleDepartment of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France.
Jesús TroyaDepartment of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain.
Laura Planas-SerraNeurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.
Agatha SchlüterNeurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.
Marta GutCNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, 08028, Barcelona, Spain.
Aurora PujolNeurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.
Luis M AllendeImmunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.
Carlos Rodriguez-GallegoDepartment of Immunology, University Hospital of Gran Canaria Dr. Negrín, Canarian Health System, Las Palmas de Gran Canaria, Spain.
Carlos FloresGenomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.
Oscar Cabrera-MaranteImmunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.
Daniel E PleguezueloImmunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.
Rebeca Pérez de DiegoInstitute of Biomedical Research of IdiPAZ, University Hospital "La Paz", Madrid, Spain.
Sevgi KelesNecmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.
Gokhan AytekinKonya City Hospital, Division of Allergy and Immunology, Konya, Turkey.
Ozge Metin AkcanNecmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.
Yenan T BrycesonCentre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden.
Peter BergmanDepartment of Laboratory Medicine, Division of Clinical Microbiology, Karolinska Institute, Stockholm, Sweden.
Petter BrodinScience for Life Laboratory, Department of Women's and Children's Health, Karolinska Institute, Solna, Sweden.
Daniel SmoleCentral Hospital-Anesthesia and Intensive Care Unit, Karlstad, Sweden.
C I Edvard SmithDepartment of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institute, Stockholm, Sweden.
Anna-Carin NorlinThe Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden.
Tessa M CampbellCentre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden.
Laura E CovillCentre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden.
Lennart HammarströmDepartment of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.
Qiang Pan-HammarströmDepartment of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.
Hassan AbolhassaniDepartment of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.
Shrikant ManeDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Nico MarrDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
Manar AtaDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
Fatima Al AliDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
Taushif KhanDepartment of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.
András N SpaanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Clifton L DalgardDepartment of Anatomy, Physiology & Genetics Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Paolo BonfantiDepartment of Infectious Diseases, San Gerardo Hospital-University of Milano-Bicocca, Monza, Italy.
Andrea BiondiPediatric Department and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM- Ospedale San Gerardo, Monza, Italy.
Sarah TubianaCentre d'Investigation Clinique, INSERM CIC 1425, Paris, France.
Charles BurdetCentre d'Investigation Clinique, INSERM CIC 1425, Paris, France.
Robert NussbaumInvitae, San Francisco, CA, USA.
Amanda Kahn-KirbyInvitae, San Francisco, CA, USA.
Andrew L SnowDepartment of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
COVID Human Genetic Effort
COVID-STORM Clinicians
COVID Clinicians
Imagine COVID Group
French COVID Cohort Study Group
CoV-Contact Cohort
Amsterdam UMC Covid-
Biobank
NIAID-USUHS COVID Study Group
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Stéphanie Boisson-DupuisSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Shen-Ying ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Vivien BéziatSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Richard P Lifton *Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Paul Bastard *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Luigi D Notarangelo *Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
Laurent Abel *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Helen C Su *Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
Emmanuelle Jouanguy *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Ali Amara *Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France.
Vassili Soumelis *University of Paris, INSERM U976, F-75006 Paris, France.
Aurélie Cobat *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Qian Zhang *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Jean-Laurent Casanova *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.
Inserm · FRKarolinska Institutet · SERockefeller University · USVita-Salute San Raffaele University · ITCentre National de la Recherche Scientifique · FRHebron University · PSKarolinska University Hospital · SEUniversidad de Antioquia · COYale University · USAssistance Publique – Hôpitaux de Paris · FRBakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi · TRHoward Hughes Medical Institute · USInstituto de Salud Carlos III · ESInvitae (United States) · USNecmettin Erbakan University · TRResearch Institute Hospital 12 de Octubre · ESSina Hospital · IRUniformed Services University of the Health Sciences · USUniversidad de La Sabana · COAzienda Ospedaliera San Gerardo · IT
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MDeveloping, 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
$3.7MCharacterization of host immune responses to SARS-CoV-2ZIAAI001270 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2020 to 2025
$1.2MHoward Hughes Medical InstituteIntramural NIH HHS 1Z1 AA1001265Intramural NIH HHS ZIA AI001265Intramural NIH HHS ZIA AI001270Medical Research Council MR/S032304/1NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001866NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI163029
Abstract
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked
Indexed as
AdolescentAdultAgedAged, 80 and overAllelesChildChild, PreschoolCOVID-19Genetic Diseases, X-LinkedHumansImmune System DiseasesInfantMaleMiddle AgedPedigreePenetranceTLR7 protein, humanToll-Like Receptor 7
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
NCT05582512ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.