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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Takaki Asano, Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada‐Vélez, Majistor Raj Luxman Maglorius Renkilaraj, Peng Zhang, Laurent Meertens, Alexandre Bolze, Marie Materna, Sarantis Korniotis, Adrian Gervais, Estelle Talouarn, Benedetta Bigio, Yoann Seeleuthner, Kaya Bilgüvar, Yu Zhang, Anna‐Lena Neehus, Masato Ogishi, Simon J. Pelham, Jérémie Rosain, Quentin Philippot, Pere Soler‐Palacín, Roger Colobrán, Andrea Martín-Nalda, Jacques G. Rivière, Yacine Tandjaoui-Lambiotte, Khalil Chaïbi, Mohammad Shahrooei, Ilad Alavi Darazam, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoğlu, Figen Palabıyık, Tayfun Özçelık, Giuseppe Novelli, Antonio Novelli, Giorgio Casari, Alessandro Aiuti, Paola Carrera, Simone Bondesan, Federica Barzaghi, Patrizia Rovere-Querini, Cristina Tresoldi, José Luis Franco, Julian Rojas, Luis Felipe Reyes, Ingrid G. Bustos, Andrés A. Arias, Guillaume Morelle, Christèle Kyheng, Jesús Troya, Laura Planas‐Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Luís M. Allende, Carlos Rodríguez‐Gallego, Carlos Flores, Óscar Cabrera-Marante, Daniel E. Pleguezuelo, Rebeca Pérez de Diego, Sevgi Keleş, Gökhan Aytekіn, Özge Metin Akcan, Yenan T. Bryceson, Peter Bergman, Petter Brodin, Daniel Smole, Smith Rjh, Anna-Carin Norlin, Tessa M. Campbell, Laura Covill, Lennart Hammarström, Qiang Pan‐Hammarström, Hassan Abolhassani, Shrikant Mane, Nico Marr, Manar Ata, Fatima Al Ali, Taushif Khan, András N. Spaan, Clifton L. Dalgard, Paolo Bonfanti, Andrea Biondi, Sarah Tubiana, Charles Burdet, Robert L. Nussbaum, Amanda Kahn-Kirby, Andrew L. Snow, Jacinta Bustamante, Anne Puel, Stéphanie Boisson‐Dupuis, Shen‐Ying Zhang, Vivien Béziat, Richard P. Lifton, Paul Bastard, Luigi D. Notarangelo, Laurent Abel, Helen C. Su, Emmanuelle Jouanguy, Ali Amara, Vassili Soumelis, Aurélie Cobat, Qian Zhang, Jean‐Laurent Casanova
Bibliographic record
VenueScience Immunology · 2021
Typearticle
Languageen
FieldMedicine
TopicRespiratory viral infections research
Canadian institutionsnot available
FundersNHLBI Division of Intramural ResearchNational Institute of Allergy and Infectious DiseasesUniversité Claude Bernard Lyon 1Agencia Estatal de InvestigaciónInstituto de Salud Carlos IIIQatar National Research FundUniformed Services University of the Health SciencesUniversity of California, Los AngelesNational Institutes of HealthUniversité de ParisCenter for Innovative MedicineSorbonne UniversitéInstituto Colombiano de Crédito Educativo y Estudios Técnicos en el ExteriorAgence Nationale de la RechercheUniversität InnsbruckLékařská fakulta, Masarykova univerzitaUniverzita Karlova v PrazeMinisterio de Ciencia e InnovaciónUniversitat Autònoma de BarcelonaUniversité de LyonRegione LazioMansoura UniversityMedical Research CouncilTartu ÜlikoolUniversità degli Studi di BresciaCentral European Institute of TechnologyFondation du SouffleCentre Hospitalier Universitaire VaudoisUniversité de LausanneInstituto Tecnológico y de Energías RenovablesGöteborgs UniversitetUniversidade de São PauloScience for Life LaboratoryUniversidad de AntioquiaHospices Civils de LyonMedizinische Universität InnsbruckCentre National de la Recherche ScientifiqueFonds National de la Recherche LuxembourgMinistero della SaluteSidra MedicineInstitut National de la Santé et de la Recherche MédicaleUniversiteit GentFederal Aviation AdministrationInvitaeImperial College LondonNorthwell HealthInstitut des maladies génétiques ImagineUniversitair Ziekenhuis GentInstituto Nacional de PediatriaBC Children's HospitalLeidosTel Aviv UniversityUniversidad de La LagunaMasarykova UniverzitaDepartamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS)Frederick National Laboratory for Cancer ResearchGenentechMurdoch Children's Research InstituteEuropean CommissionHelsingin YliopistoChildren's Healthcare of AtlantaNational Human Genome Research InstituteAarhus UniversitetshospitalAarhus UniversitetHarvard UniversityDivision of Intramural Research, National Institute of Allergy and Infectious DiseasesStockholms Läns LandstingUniversity of New South WalesKU LeuvenFondation pour la Recherche MédicaleInstitució Catalana de Recerca i Estudis AvançatsCliniques Universitaires Saint-LucEmory UniversityChildren’s Hospital of Wisconsin Research InstituteNational Center for Advancing Translational SciencesMercatus Center, George Mason UniversityJPB FoundationAssistance publique-Hôpitaux de ParisUniversità degli Studi di Milano-BicoccaInstitut Gustave-RoussyUniversité de BourgogneUniversity of PennsylvaniaFisher Center for Alzheimer's Research FoundationLudwig Institute for Cancer ResearchSahlgrenska AkademinHenry M. Jackson FoundationFondation Bettencourt SchuellerSt. Giles FoundationUniversidad de NavarraGeorge Mason UniversityKaradeniz Teknik ÜniversitesiKarolinska InstitutetYale UniversityUniversité Hassan II de CasablancaGilead SciencesBrigham and Women's HospitalGeorgia Clinical and Translational Science AllianceHoward Hughes Medical Institute
KeywordsTLR7PneumoniaImmunologyAsymptomaticCohortBiologyPopulationMedicineInternal medicineGastroenterologyImmune systemInnate immune systemToll-like receptor
Abstract
The patients' blood plasmacytoid dendritic cells (pDCs) produce low levels of type I IFNs in response to SARS-CoV-2. Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years. Human TLR7 and pDCs are essential for protective type I IFN immunity against SARS-CoV-2 in the respiratory tract.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.015
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.005 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.064
GPT teacher head0.394
Teacher spread0.330 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations420
Published2021
Admission routes1
Has abstractyes