{"id":"W3193375219","doi":"10.1126/sciimmunol.abl4348","title":"X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19","year":2021,"lang":"en","type":"article","venue":"Science Immunology","topic":"Respiratory viral infections research","field":"Medicine","cited_by":420,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"NHLBI Division of Intramural Research; National Institute of Allergy and Infectious Diseases; Université Claude Bernard Lyon 1; Agencia Estatal de Investigación; Instituto de Salud Carlos III; Qatar National Research Fund; Uniformed Services University of the Health Sciences; University of California, Los Angeles; National Institutes of Health; Université de Paris; Center for Innovative Medicine; Sorbonne Université; Instituto Colombiano de Crédito Educativo y Estudios Técnicos en el Exterior; Agence Nationale de la Recherche; Universität Innsbruck; Lékařská fakulta, Masarykova univerzita; Univerzita Karlova v Praze; Ministerio de Ciencia e Innovación; Universitat Autònoma de Barcelona; Université de Lyon; Regione Lazio; Mansoura University; Medical Research Council; Tartu Ülikool; Università degli Studi di Brescia; Central European Institute of Technology; Fondation du Souffle; Centre Hospitalier Universitaire Vaudois; Université de Lausanne; Instituto Tecnológico y de Energías Renovables; Göteborgs Universitet; Universidade de São Paulo; Science for Life Laboratory; Universidad de Antioquia; Hospices Civils de Lyon; Medizinische Universität Innsbruck; Centre National de la Recherche Scientifique; Fonds National de la Recherche Luxembourg; Ministero della Salute; Sidra Medicine; Institut National de la Santé et de la Recherche Médicale; Universiteit Gent; Federal Aviation Administration; Invitae; Imperial College London; Northwell Health; Institut des maladies génétiques Imagine; Universitair Ziekenhuis Gent; Instituto Nacional de Pediatria; BC Children's Hospital; Leidos; Tel Aviv University; Universidad de La Laguna; Masarykova Univerzita; Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS); Frederick National Laboratory for Cancer Research; Genentech; Murdoch Children's Research Institute; European Commission; Helsingin Yliopisto; Children's Healthcare of Atlanta; National Human Genome Research Institute; Aarhus Universitetshospital; Aarhus Universitet; Harvard University; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; Stockholms Läns Landsting; University of New South Wales; KU Leuven; Fondation pour la Recherche Médicale; Institució Catalana de Recerca i Estudis Avançats; Cliniques Universitaires Saint-Luc; Emory University; Children’s Hospital of Wisconsin Research Institute; National Center for Advancing Translational Sciences; Mercatus Center, George Mason University; JPB Foundation; Assistance publique-Hôpitaux de Paris; Università degli Studi di Milano-Bicocca; Institut Gustave-Roussy; Université de Bourgogne; University of Pennsylvania; Fisher Center for Alzheimer's Research Foundation; Ludwig Institute for Cancer Research; Sahlgrenska Akademin; Henry M. Jackson Foundation; Fondation Bettencourt Schueller; St. Giles Foundation; Universidad de Navarra; George Mason University; Karadeniz Teknik Üniversitesi; Karolinska Institutet; Yale University; Université Hassan II de Casablanca; Gilead Sciences; Brigham and Women's Hospital; Georgia Clinical and Translational Science Alliance; Howard Hughes Medical Institute","keywords":"TLR7; Pneumonia; Immunology; Asymptomatic; Cohort; Biology; Population; Medicine; Internal medicine; Gastroenterology; Immune system; Innate immune system; Toll-like receptor","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009805273,0.000474094,0.0002858935,0.0004803272,0.0002863508,0.000235606,0.0001216766,0.0003815621,0.004595152],"category_scores_gemma":[0.0004237542,0.0001381227,0.000275124,0.0002259989,0.0001730687,0.000202099,0.0002209638,0.0002679491,0.0004801194],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008150176,"about_ca_system_score_gemma":0.0001122778,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00123693,"about_ca_topic_score_gemma":0.0009449593,"domain_scores_codex":[0.9998946,0.00001621592,0.000007951243,0.00002814689,0.00002108225,0.00003189774],"domain_scores_gemma":[0.9998807,0.00001489294,0.00004928307,0.000004969118,0.00001066568,0.00003960724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001133834,0.0001530551,0.9265681,0.00006936258,0.0001212664,0.02009721,0.0002882137,0.0000698537,0.03251619,0.0002659716,0.001692506,0.01702441],"study_design_scores_gemma":[0.00002090727,0.0005117044,0.9559174,0.00004835974,0.00008109344,0.03921933,0.0003148178,0.0001489907,0.001618065,0.00011575,0.001992283,0.00001136671],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965773,0.0009528101,0.0003032965,0.0001117112,0.00003228557,0.0000110508,0.0003563991,0.00002900116,0.00162601],"genre_scores_gemma":[0.9978314,0.0004224144,0.0001138631,0.00009233033,0.00003224134,0.000005807016,0.0002517506,0.00000575546,0.00124438],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004595152,"threshold_uncertainty_score":0.01537234,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06417807709484823,"score_gpt":0.3938075266060462,"score_spread":0.329629449511198,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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