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Record W4323348324 · doi:10.1084/jem.20220170

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

2023· article· en· W4323348324 on OpenAlexaff
Ana García‐García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé‐Violán, Àngela Deyà‐Martínez, Blanca García‐Solis, José M. Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B. Domachowske, Elena Colino, Juan Luis Santos, Francisco Manuel Marco de la Calle, Claudio Pignata, Aziz Bousfiha, Stuart E. Turvey, Stefanie Bauer, Filomeen Haerynck, J. Gonzalo Ocejo‐Vinyals, Francisco Lendínez, Seraina Prader, Nora Naumann‐Bartsch, Jana Pachlopnik Schmid, Catherine M. Biggs, Kyla J. Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Clàudia Fortuny, Swetha Madhavarapu, Daniel Conway, Carolina Prando, Laire Schidlowski, María T. Martínez-Saavedra, Rafael Alfaro, Felipe Rodrı́guez de Castro, Gerhard Kindle, Nizar Mahlaoui, Markus G. Seidel, Lougaris Vassilios, Mikko Seppänen, Alessandro Aiuti, Saleh Al‐Muhsen, Fahd Al‐Mulla, Mark S. Anderson, Evangelos Andreakos, Andrés A. Arias, Hagit Baris Feldman, Alexandre Bélot, Dusan Bogunovic, Alexandre Bolze, Анастасія Бондаренко, Ahmed Aziz Bousfiha, Petter Brodin, Yenan T. Bryceson, Carlos D. Bustamante, Manish J. Butte, Giorgio Casari, John Christodoulou, Antônio Condino‐Neto, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Murkesh Desai, Beth A. Drolet, Jamila El Baghdadi, Sara Elva Espinosa‐Padilla, Jacques Fellay, José Luis Franco, Antoine Froidure, Peter K. Gregersen, Bodo Grimbacher, David Hagin, Rabih Halwani, Lennart Hammarström, James R. Heath, Sarah E. Henrickson, Elena W.Y. Hsieh, Eystein S. Husebye, Kohsuke Imai, Yuval Itan, Erich D. Jarvis, Timokratis Karamitros, Kai Kisand, Cheng‐Lung Ku, YL Lau, Yun Ling, C. Lucas, Tom Maniatis, Davood Mansouri, László Maródi, Isabelle Meyts, Joshua D. Milner, Kristina Mironska, Trine H. Mogensen, Tomohiro Morio, Lisa F. P. Ng, Luigi D. Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O’Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Özçelık, Qiang Pan‐Hammarström, Jean W. Pape, Rebecca Perez de Diego, David S. Perlin, Graziano Pesole, Anna M. Planas, Aurora Pujol, Lluís Quintana‐Murci, Sathishkumar Ramaswamy, Laurent Rénia, Igor Resnick, Carlos Rodríguez‐Gallego, Vanessa Sancho‐Shimizu, Anna Šedivá, Mikko R.J. Seppänan, Mohammed Shahrooei, Anna Shcherbina, Ondřej Slabý, Andrew L. Snow, Pere Soler‐Palacín, András N. Spaan, Ivan Tancevski, Stuart G. Tangye, Ahmad Abou Tayoun, K. M. Furkan Uddin, Mohammed Uddin, Diederik van de Beek, Donald C. Vinh, Horst von Bernuth, Joost Wauters, Mayana Zatz, Paweł Zawadzki, Helen C. Su, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Aurélie Cobat, Qian Zhang, Laia Alsina

Bibliographic record

VenueThe Journal of Experimental Medicine · 2023
Typearticle
Languageen
FieldImmunology and Microbiology
TopicImmune Response and Inflammation
Canadian institutionsBC Children's HospitalUniversity of British Columbia
FundersFundación Canaria Instituto de Investigación Sanitaria de CanariasAgencia Estatal de InvestigaciónInstituto de Salud Carlos IIINational Center for Advancing Translational SciencesHORIZON EUROPE Framework ProgrammeNational Center for Research ResourcesUniversität ZürichGeneralitat de CatalunyaBundesministerium für Bildung und ForschungMinisterio de Ciencia e InnovaciónFundación MapfreElse Kröner-Fresenius-StiftungEuropean CommissionNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungCentres de Recerca de CatalunyaCSL BehringNational Institute of Allergy and Infectious DiseasesHoward Hughes Medical InstituteNational Science Foundation
KeywordsPneumoniaPenetranceMedicinePopulationImmunologyAtypical pneumoniaInternal medicineBiologyGeneGeneticsPhenotype

Abstract

fetched live from OpenAlex

X-linked recessive deficiency of TLR7, a MyD88- and IRAK-4-dependent endosomal ssRNA sensor, impairs SARS-CoV-2 recognition and type I IFN production in plasmacytoid dendritic cells (pDCs), thereby underlying hypoxemic COVID-19 pneumonia with high penetrance. We report 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency infected with SARS-CoV-2 (mean age: 10.9 yr; 2 mo to 24 yr), originating from 17 kindreds from eight countries on three continents. 16 patients were hospitalized: six with moderate, four with severe, and six with critical pneumonia, one of whom died. The risk of hypoxemic pneumonia increased with age. The risk of invasive mechanical ventilation was also much greater than in age-matched controls from the general population (OR: 74.7, 95% CI: 26.8-207.8, P < 0.001). The patients' susceptibility to SARS-CoV-2 can be attributed to impaired TLR7-dependent type I IFN production by pDCs, which do not sense SARS-CoV-2 correctly. Patients with inherited MyD88 or IRAK-4 deficiency were long thought to be selectively vulnerable to pyogenic bacteria, but also have a high risk of hypoxemic COVID-19 pneumonia.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.180
Threshold uncertainty score0.269

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.031
GPT teacher head0.299
Teacher spread0.268 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations56
Published2023
Admission routes1
Has abstractyes

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