Evidence map›Paper›PMID 36324795›Full record

ArticlemedRxiv : the preprint server for health sciences2022

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Peng Zhang and 117 more

Open access · greenAbstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 10 citations in OpenAlex.

  1. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

127 authors at 20 institutions in 25 countries.

Daniela Matuozzo
Estelle Talouarn
Astrid Marchal
Jeremy Manry
Yoann Seeleuthner
Yu Zhang
Alexandre Bolze
Matthieu Chaldebas
Baptiste Milisavljevic
Peng Zhang
Adrian Gervais
Paul Bastard
Takaki Asano
Lucy Bizien
Federica Barzaghi
Hassan Abolhassani
Ahmad Abou Tayoun
Alessandro Aiuti
Ilad Alavi Darazam
Luis M Allende
Rebeca Alonso-Arias
Andrés Augusto Arias
Gokhan Aytekin
Peter Bergman
Simone Bondesan
Yenan T Bryceson
Ingrid G Bustos
Oscar Cabrera-Marante
Sheila Carcel
Paola Carrera
Giorgio Casari
Khalil Chaïbi
Roger Colobran
Antonio Condino-Neto
Laura E Covill
Loubna El Zein
Carlos Flores
Peter K Gregersen
Marta Gut
Filomeen Haerynck
Rabih Halwani
Selda Hancerli
Lennart Hammarström
Nevin Hatipoğlu
Adem Karbuz
Sevgi Keles
Christèle Kyheng
Rafael Leon-Lopez
Jose Luis Franco
Davood Mansouri
Javier Martinez-Picado
Ozge Metin Akcan
Isabelle Migeotte
Pierre-Emmanuel Morange
Guillaume Morelle
Andrea Martin-Nalda
Giuseppe Novelli
Antonio Novelli
Tayfun Ozcelik
Figen Palabiyik
Qiang Pan-Hammarström
Rebeca Pérez de Diego
Laura Planas-Serra
Daniel E Pleguezuelo
Carolina Prando
Aurora Pujol
Luis Felipe Reyes
Jacques G Rivière
Carlos Rodriguez-Gallego
Julian Rojas
Patrizia Rovere-Querini
Agatha Schlüter
Mohammad Shahrooei
Ali Sobh
Pere Soler-Palacin
Yacine Tandjaoui-Lambiotte
Imran Tipu
Cristina Tresoldi
Jesus Troya
Diederik van de Beek
Mayana Zatz
Pawel Zawadzki
Saleh Zaid Al-Muhsen
Hagit Baris-Feldman
Manish J Butte
Stefan N Constantinescu
Megan A Cooper
Clifton L Dalgard
Jacques Fellay
James R Heath
Yu-Lung Lau
Richard P Lifton
Tom Maniatis
Trine H Mogensen
Horst von Bernuth
Alban Lermine
Michel Vidaud
Anne Boland
Jean-François Deleuze
Robert Nussbaum
Amanda Kahn-Kirby
France Mentre
Sarah Tubiana
Guy Gorochov
Florence Tubach
Pierre Hausfater
COVID Human Genetic Effort
COVIDeF Study Group
French COVID Cohort Study Group
CoV-Contact Cohort
COVID-STORM Clinicians
COVID Clinicians
Orchestra Working Group
Amsterdam UMC Covid-19 Biobank
NIAID-USUHS COVID Study Group
Isabelle Meyts
Shen-Ying Zhang
Anne Puel
Luigi D Notarangelo
Stephanie Boisson-Dupuis
Helen C Su
Bertrand Boisson
Emmanuelle Jouanguy
Jean-Laurent Casanova
Qian Zhang
Laurent Abel
Aurélie Cobat
Inserm · FRVita-Salute San Raffaele University · ITRockefeller University · USKarolinska University Hospital · SEMohammed Bin Rashid University of Medicine and Health Sciences · AEUniversitat Autònoma de Barcelona · ESCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRInstituto de Salud Carlos III · ESKarolinska Institutet · SEUniversidad de Antioquia · COUniversité Libre de Bruxelles · BEAssistance Publique – Hôpitaux de Paris · FRBakırköy Dr.Sadi Konuk Eğitim ve Araştırma Hastanesi · TRHospital La Paz Institute for Health Research · ESHospital Universitario Infanta Leonor · ESInstitució Catalana de Recerca i Estudis Avançats · ESNational Institute of Allergy and Infectious Diseases · USNecmettin Erbakan University · TRUniversidad Complutense de Madrid · ESUniversidad de La Sabana · CO

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Monogenic 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
$8.7M
NCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI088364
6 · The paper itself

Abstract

Background: We previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in another 15-20% of cases. Methods: We report here a genome-wide rare variant burden association analysis in 3,269 unvaccinated patients with life-threatening COVID-19 (1,301 previously reported and 1,968 new patients), and 1,373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. A quarter of the patients tested had antibodies against type I IFN (234 of 928) and were excluded from the analysis. Results: No gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was Conclusions: Rare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old.

Identifiers

PMID36324795
PMCPMC9628204
OpenAlexW4307522061

What OpenQuestion holds

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Registered trials

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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.