7 research outputs found
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
- Abbott Kristin M.
- Abbott Kristin M.
- Afenjar Alexandra
- Agathe Jean-Madeleine de Sainte
- Agathe Jean-Madeleine de Sainte
- Albuisson Juliette
- Alembik Yves
- Alessandri Jean-Luc
- Alexander Elizabeth
- Allamand Valérie
- Alonso GarcĂa de la Rosa F. Javier
- Amiel Jeanne
- Amram Daniel
- Aretz Stefan
- Atalaia Antonio
- Attie-Bitach Tania
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Banka Siddharth
- Banka Siddharth
- Baujat GeneviĂšve
- BaĆak AyĆe Nazlı
- Beeson David
- Beijer Danique
- Bellanger SĂ©verine Audebert
- Beltran Sergi
- Ben Yaou Rabah
- Benetti Elisa
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bitoun Pierre
- Bizaoui Varoona
- Blesson Sophie
- Boer Elke de
- Bongers Ernie
- Bonne GisĂšle
- Bonnet-Dupeyron Marie Noëlle
- Bonniaud Bertille
- Bourbouli Mara
- Bournez Marie
- Boute Odile
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Busa Tiffany
- Cali Elisa
- Capella Gabriel
- Capri Yline
- Carneiro FĂĄtima
- Carpancea Evelina
- Cartault François
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chassaing Nicolas
- Chiaverini Christine
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Ciolfi Andrea
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Cohen Enzo
- Colin Estelle
- Colobran Roger
- Colson Cindy
- Cordier-Alex Marie-Pierre
- Cordts Isabell
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Coubes Christine
- Cusin VĂ©ronica
- Dallapiccola Bruno
- Dallapiccola Bruno
- Dallapiccola Bruno
- Danis Daniel
- Danis Daniel
- Davoine Claire-Sophie
- de Boer Elke
- de Boer Elke
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- De Ridder Willem
- de Voer Richarda M.
- de Vries Bert B.A.
- de Vries Geert
- De Winter Jonathan
- Delanne Julian
- Delgado Beatriz MartĂnez
- Demeer Bénédicte
- Demidov German
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Desplantes Claire
- Diene Gwenaëlle
- Dieux-Coeslier Anne
- Dizjikan Farid Yavari
- Doco-Fenzy Martine
- DoleĆŸalovĂĄ Pavla
- Doray Bérénice
- Drouin-Garraud Valérie
- Drunat SĂ©verine
- Duerinckx Sarah
- Duffourd Yannis
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- El Chehadeh Salima
- Ellwanger Kornelia
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Faivre Laurence
- Faivre Laurence
- Fallerini Chiara
- Fallerini Chiara
- Fargeot Anne
- Feillet François
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Fradin MĂ©lanie
- Francannet Christine
- FrankovĂĄ Vera
- Freeberg Mallory
- Furini Simone
- Gaillard Dominique
- Gao Fei
- Gao Fei
- Garrido Luzia
- GeneviĂšve David
- Gibson Spencer
- Gilbert-Dussardier Brigitte
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Giuliano Fabienne
- Goizet Cyril
- Goldenberg Alice
- Graessner Holm
- Graessner Holm
- Grimbacher Bodo
- Grotto Sarah
- Gualandi Francesca
- Guerrini Renzo
- Guerrot Anne-Marie
- Guillot-Noel LĂ©na
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- GĂ©rard-Blanluet Marion
- Haack Tobias B.
- Haack Tobias B.
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hanauer Marc
- Hanna Mike
- Hanna Nadine
- Havlovicova Marketa
- Havlovicova Marketa
- Havlovicovå Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- HernĂĄndez Carles
- Heron Delphine
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Hoischen Alexander
- Hoischen Alexander
- Holder-Espinasse Muriel H.
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houcinat Nada
- Houlden Henry
- Iacomino Michele
- Isidor Bertrand
- Jackson Adam
- Jackson Adam
- Jackson Adam
- Jacquemin Emmanuel
- Jacquemont Marie-Line
- Janssen Erik
- Jarava Clara Franco
- Jean-Marçais Nolwenn
- Johanson Lennart
- Johansson Lennart
- Johari Mridul
- Johari Mridul
- José Celina São
- Jouk Pierre-Simon
- Jouret BĂ©atrice
- Journel Hubert
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kerstjens Frederikse Wilhemina S.
- Kerstjens Mieke
- Kessler Christoph
- Kilic Esra
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kokosali Evgenia
- KremlikovĂĄ Radka PourovĂĄ
- Köhler Sebastian
- Lacaze Elodie
- Lacombe Didier
- Lacombe Didier
- Laffargue Fanny
- Lagorce David
- Lambert Laëtitia
- Lambros Mathioudakis
- Laner Andreas
- Laudier BĂ©atrice
- Laurie Steven
- Layet Valérie
- Lebreton Emeline
- Lederer Damien
- Lederer Damien
- Lehalle Daphné
- Leheup Bruno
- Leperrier Nathalie
- Lerche Holger
- Lespinasse James
- Li Shuang
- LiĆĄkovĂĄ Petra
- LochmĂŒller Hanns
- LochmĂŒller Hanns
- Lohmann Katja
- Lyonnet Stanislas
- LĂłpez-MartĂn Estrella
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Marlin Sandrine
- Martinovic Jelena
- MartĂn Estrella LĂłpez
- MartĂn Estrella LĂłpez
- Mary Sandrine
- Masurel Alice
- MasĂł Laura Batlle
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Mathieu MichĂšle
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Maystadt Isabelle
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Mencarelli Maria Antonietta
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molin Arnaud
- Molnar Maria Judit
- Morice-Picard Fanny
- Morin Gilles
- Morleo Manuela
- Morleo Manuela
- Morsy Heba
- Morsy Heba
- Moutton SĂ©bastien
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- MĂŒnchau Alexander
- Nambot Sophie
- Natera de Benito Daniel
- Naudion Sophie
- Neerincx Pieter B.
- Neiva Cecilia
- Nelson Isabelle
- Nelson Isabelle
- Neri Marcella
- Nigro Vicenzo
- Nigro Vincenzo
- Odent Sylvie
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Ousager Lilian Bomme
- Papakonstantinou Anastasios
- Paramonov Ida
- Paramonov Ida
- Parent Philippe
- Parkinson Helen
- Paske Iris te
- Passemard Sandrine
- Patch Christine
- Paul Carle
- Pauly Martje
- Pelaez Jose Garcia
- Perrin Laurence
- Perthus Isabelle
- Peterlin Borut
- Peters Sophia
- Petit Florence
- Peyron Christine
- Pfundt Rolph
- Phan Alice
- Philip Nicole
- Philippe Christophe
- PicĂł Daniel
- Piluso Giulio
- Pinelli Michele
- Pinelli Michele
- Pinson Lucile
- Piscia Davide
- Pizzi Simone
- Pizzi Simone
- Pizzi Simone
- Poirsier CĂ©line
- Polavarapu Kiran
- Poppe Bruce
- Posada Manuel
- Posada Manuel
- Prieur Fabienne
- Putoux Audrey
- PĂ©lissier Aurore
- Pérez-Dueñas Belén
- Quélin Chloé
- Radio Francesca C.
- Radio Francesca Clementina
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renaud Mathilde
- Renieri Alessandra
- Renieri Alessandra
- Renieri Alessandra
- Reversade Bruno
- Riaz Umar
- Riess Olaf
- Riess Olaf
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Rooryck Caroline
- Rooryck Caroline
- Roos Andreas
- Rossi Massimiliano
- Rossi Rachele
- Ruaud Lyse
- Ruivenkamp Claudia A.L.
- Rump Andreas
- Ruvolo David
- Ryba Lukas
- Ryba Lukas
- Sablauskas Karolis
- Safraou Hana
- Samimi Mahtab
- Sanlaville Damien
- Santen Gijs W.E.
- Sarda Pierre
- Sarkozy Anna
- Sarrazin Elisabeth
- Savarese Marco
- Savarese Marco
- Scala Marcello
- Schaefer Ălise
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schwarz Martin
- Schwarz Martin
- Schöls Ludger
- SchĂŒle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Sorlin Arthur
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Spodenkiewicz Marta
- Steehouwer Marloes
- Steichen Elisabeth
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- SĂĄnchez Eva Bermejo
- Tartaglia Marco
- Tartaglia Marco
- Tartaglia Marco
- te Paske Iris B.A.W.
- Thauvin Christel
- Thauvin Christel
- Thauvin-Robinet Christel
- Thevenon Julien
- Thomas Coline
- ThomasovĂĄ Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Torella Annalaura
- Touraine Renaud
- Toutain Annick
- Tran Mau-Them Frédéric
- TraschĂŒtz Andreas
- Trimouille Aurelien
- Trimouille Aurélien
- Trimouille Aurélien
- Trimouille Aurélien
- Turnovec Marek
- Töpf Ana
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Vabres Pierre
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- Van Kien Philippe Khau
- Van Maldergem Lionel
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Verloes Alain
- Verloes Alain
- Vetro Annalisa
- Vincent Marie
- Vincent-Delorme Catherine
- Vissers Lisenka
- Vissers Lisenka E.L.M.
- Vissers Lisenka E.L.M.
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Votypka Pavel
- Votypka Pavel
- W.E Gijs
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wells Constance
- Whalen Sandra
- Wilke Carlo
- Willems Marjolaine
- Willemsen Marjolein H.
- Xu Jishu
- Yaldiz Burcu
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zguro Kristina
- Zivi Einat
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Zurek Birte
- ât Hoen Peter A.C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2023
- Field of study
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the âClinVar low-hanging fruitâ reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The âClinVar low-hanging fruitâ analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
Simulation numérique de la propagation d'une onde de choc issue d'une explosion en champ libre et son interaction avec un modÚle biomécanique humain
- Publication venue
- HAL CCSD
- Publication date
- 15/05/2017
- Field of study
International audienceLes chargements liĂ©s Ă lâexplosion sont frĂ©quents dans le domaine militaire avec des consĂ©quences plus ou moins sĂ©vĂšres sur les structures en interaction avec cette sollicitation. Dans le contexte de protection du combattant, la comprĂ©hension de ce phĂ©nomĂšne physique est important dans lâĂ©laboration de systĂšmes de protection et pour prĂ©venir les traumatismes liĂ©s aux chargements du "blast primaire". Dans ce contexte, ce papier dĂ©crit lâĂ©tude numĂ©rique dâune onde de souffle et son interaction avec un modĂšle biomĂ©canique du corps humain, en utilisant les notions de similitude
Niobium-zirconium chronometry and early solar system development
- Author
- Publication venue
- 'American Association for the Advancement of Science (AAAS)'
- Publication date
- 01/03/2002
- Field of study
THORAX INJURY CRITERIA ASSESSMENT THROUGH NON-LETHAL IMPACT USING AN ENHANCED BIOMECHANICAL MODEL
- Author
- Publication venue
- 'World Scientific Pub Co Pte Lt'
- Publication date
- Field of study
Diagnosis of Constitutional Mismatch Repair-deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
- Author
- Auclair-Perrossier Jessie
- Blanché HélÚne
- Bodo Sahra
- Bourdeaut Franck
- Brems Hilde
- BrugiĂšres Laurence
- Buhard Olivier
- Buisine Marie-Pierre
- Cabaret Odile
- Caron Olivier
- Chalastanis Alexandra
- Cohen-Haguenauer Odile
- Colas Chrystelle
- Collura Ada
- Coulet Florence
- Duval Alex
- Entz-Werle Natacha
- Fedhila Faten
- Fléjou Jean-François
- Frébourg Thierry
- Gauthier-Villars Marion
- Gerdes Anne-Marie
- Goldberg Yael
- Grandjouan Sophie
- Guilloux Agathe
- Hamelin Richard
- Ilencikova Denisa
- Kinzel Miriam
- Knappe Ulrich J
- Lafitte Philippe
- Lavoine Noémie
- Leclerc Julie
- Leis Alexander
- Lejeune Sophie
- Malka David
- Mathieu-Dramard MichĂšle
- Mortemousque Isabelle
- Muleris Martine
- Parfait BĂ©atrice
- Ruiz-Ponte Clara
- Sheridan Eamonn
- Soubrier Florent
- Svrcek Magali
- Tinat Julie
- Vasen Hans
- Verloes Alain
- Vidaud Dominique
- Wafaa Badre
- Wang Qing
- Wimmer Katharina
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/10/2015
- Field of study
Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are non-informative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD.publisher: Elsevier
articletitle: Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
journaltitle: Gastroenterology
articlelink: http://dx.doi.org/10.1053/j.gastro.2015.06.013
content_type: article
copyright: Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.status: publishe
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
- Author
- Abad Jorge
- Abel Laurent
- Abel Laurent
- Abel Laurent
- Abel Laurent
- Accordino Giulia
- Achille Cristian
- Acosta-Ampudia Yeny
- Agra Juan José Cåceres
- Aguilera-Albesa Sergio
- AguilĂł-Cucurull Aina
- Aiuti Alessandro
- Aiuti Alessandro
- Aiuti Alessandro
- Akcan Ăzge Metin
- Al-Muhsen Saleh
- Al-Mulla Fahd
- Alavoine Loubna
- Albert Matthew
- Albisures Jonathan Antonio Roblero
- Alcover Andres
- Aldave Juan
- Algera Anne Geke
- Aliberti Anna
- Alkan Gulsum
- Alkhater Suzan
- Alkhater Suzan
- Allardet-Servent Jerome
- Allavena Clotilde
- Allende Luis
- Alonso-Arias Rebeca
- Alshahrani Mohammed
- Alsina Laia
- Alvarez Josep Trenado
- Alyanakian Marie-Alexandra
- Amador-Borrero Blanca
- Amat Karine
- Amoura Zahir
- Anaya Juan-Manuel
- Anderson Mark
- Anderson Mark
- Andreakos Evangelos
- Andreakos Evangelos
- Andrejak Claire
- Andrés Ana De
- Anglicheau Dany
- Angoulvant François
- Annereau Jean-Philippe
- AntolĂ Arnau
- Appelman Brent
- Arias Andrés
- Arias Andrés Augusto
- Arkin Lisa
- Arquero Miguel Fernandez
- Arranz MarĂa JesĂșs
- Arrestier Romain
- Arrestier Romain
- Asano Takaki
- Aschard Hugues
- Aubart MĂ©lodie
- Auguet Teresa
- Avramenko Iryna
- Aytekin Gökhan
- Aytekin Selma Erol
- Azot Axelle
- Azoulay Cecile
- Bachelet Delphine
- Bahram Seiamak
- Bajolle Fanny
- Baldanti Fausto
- Baldolli Aurélie
- Ballester Maite
- Baris-Feldman Hagit
- Barreiros Lucila
- Barrou Benoit
- Bartoli Marie
- Barzaghi Federica
- Basmaci Romain
- Basso Sabrina
- Bastard Paul
- Batten Isabella
- Bauters Fré
- Bax Diane
- Bayhan Gulsum Iclal
- Behillil Sylvie
- Behillill Sylvie
- Bellani Giacomo
- Belot Alexandre
- Belot Alexandre
- Belot Alexandre
- Beluze Marine
- Benech Nicolas
- Benkerrou Dehbia
- Beretta Ilaria
- Bergin Colm
- Bertholon Frédérique
- Bettini Laura Rachele
- Beudel Martijn
- Bezrodnik Liliana
- Bhavsar Krishna
- Biggs Catherine
- Biggs Catherine
- Bilbao Agurtzane
- Bilguvar Kaya
- Biondi Andrea
- Bitker Laurent
- Bizien Lucy
- Blanchard-Rohner Geraldine
- Blanco Ignacio
- BlandiniĂšres Adeline
- Bleibtreu Alexandre
- Bloomfield Marketa
- BlĂĄzquez-Gamero Daniel
- Bogaard Harm Jan
- Bogunovic Dusan
- Boisson Bertrand
- Bolivar-Prados Mireia
- Bolze Alexandre
- Bomers Marije
- Bondarenko Anastasiia
- Bondarenko Anastasiia
- Bondarenko Anastasiia
- Bonfanti Paolo
- Bonneaudeau Brigitte
- Bonta Peter
- Borghesi Alessandro
- Borie Raphael
- Borrero Blanca Amador
- Bos Lieuwe
- Bosteels CĂ©dric
- Botdhlo-Nevers Elisabeth
- Botelho-Nevers Elisabeth
- Botta Michela
- Bouadma Lila
- Bouadma Lila
- Boucherit Soraya
- Boudhabhay Idris
- Bouiller KĂ©vin
- Boulanger CĂ©cile
- Bourgeois Fleur Le
- Bourgeon Marilou
- Bourke Nollaig
- Bourke Nollaig
- Bourke Nollaig
- Bouscambert-Duchamp Maude
- Bousfiha Ahmed
- Bousfiha Ahmed
- Bousfiha Ahmed
- Bousquet Aurore
- Bousso Philippe
- Boutolleau David
- Bouvattier Claire
- Boyarchuk Oksana
- Boyarchuk Oksana
- Bozdemir Ćefika Elmas
- Bravais Juliette
- Briones M. Luisa
- Briseño-Roa Luis
- Brodin Petter
- Brodin Petter
- Brouwer Matthijs
- Bruhns Pierre
- Bruneau LĂ©a
- Brunner Marie-Eve
- Bruno Raffaele
- Bryceson Yenan
- Bueno Maria Rita P.
- Bugiani Marianna
- Buis David
- Bukhari Huda
- Bulle Esther
- Burdet Charles
- Burdet Charles
- Burrel Sonia
- Bustamante Carlos
- Bustamante Jacinta
- Butte Manish
- BĂ©ziat Vivien
- Cannet Dorothée
- Capra Ruggero
- Carapito Raphael
- Carrabba Maria
- Carrillo Jorge
- Casanova Jean-Laurent
- Casanova Jean-Laurent
- Casari Giorgio
- Casari Giorgio
- Casari Giorgio
- Casasnovas Carlos
- Caseris Marion
- Cassaniti Irene
- Castagnoli Riccardo
- Castelle Martin
- Castelli Francesco
- Castro Mateus
- Catherinot Emilie
- Cazzaniga Marina
- Celik Jale Bengi
- Cerf-Bensussan Nadine
- Cervantes-Gonzalez Minerva
- Ceschi Alessandro
- Chahine Abir
- Chair Anissa
- Chakravorty Samya
- Chalumeau Martin
- Charbit Bruno
- Charpentier Charlotte
- Chauvineau-Grenier Angélique
- Chen Jie
- Cheng Matthew
- Chirouze Catherine
- Chirouze Catherine
- Chouchane Osoul
- Chrabieh Maya
- Christodoulou John
- Ciceri Fabio
- Citerio Giuseppe
- Clavé Pere
- Clercq Jozefien De
- Cloherty Alex
- Clotet Bonaventura
- Cobat Aurélie
- Codina Anna
- Coelho Alexandra
- Coeuret-Pellicer Mireille
- Cognasse Fabrice
- Cognasse Fabrice
- Cohen Yves
- Colobran Roger
- Colobran Roger
- Comarmond Cloé
- Combes Alain
- Comoli Patrizia
- Condino-Neto Antonio
- Condino-Neto Antonio
- Conlon Niall
- Connolly Emma
- Constantinescu Stefan
- Conti Francesca
- Contro Ernesto
- Cooper Megan
- Cordel Hugues
- Correales Luisa Paola Duarte
- Corsico Angelo
- Couffignal Camille
- Couffin-Cadiergues Sandrine
- Couffin-Cadiergues Sandrine
- Coulongeat Matthieu
- CoĆkuner Taner
- Cruz InĂ©s MarĂn
- Cuadros Esmeralda Nuñez
- Cumano Ana
- Cvetkovski Aleksandar
- Cyrus Cyril
- Daganou Maria
- Dalgard Clifton
- Dalgard Clifton
- Dalmau David
- Dalmau David
- Danielson Jeffrey
- Danion François
- Darazam Ilad Alavi
- Darley David Ross
- Das Vincent
- Dauby Nicolas
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- Utsumi Takanori
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- Valsecchi Maria Grazia
- van Agtmael Michiel
- van Baarle Frank
- van Braeckel Eva
- van de Beek Diederik
- van de Beek Diederik
- van de Beek Diederik
- van den Rym Ana Maria
- van der Poll Tom
- van der Valk Marc
- van der Werf Sylvie
- van der Werf Sylvie
- van Mourik Niels
- van Praet Jens
- van Vugt MichĂšle
- Vanderlinden Dimitri
- Vandernoot Isabelle
- Vanel Noémie
- Vasse Marc
- Veelo Denise
- Veislinger Aurélie
- Velez-Santamaria Valentina
- Veliz Silvia Patricia Zuniga
- Venet Fabienne
- Vergara José Alejandro Daza
- Vidaur Loreto
- Vidaur Loreto
- Vidigal Mateus
- Vidigal Mateus
- Viel SĂ©bastien
- Vignali Valérie
- Vilaire-Meunier Marie
- Villain CĂ©dric
- Villar-GarcĂa Judit
- Vincent Audrey
- Vinh Donald
- Vinh Donald
- Visseaux Benoit
- Visseaux Benoit
- Vlaar Alexander
- Vogt Guillaume
- Voiriot Guillaume
- Volleman Carolien
- Volokha Alla
- von Bernuth Horst
- von Stemann Jakob Hjorth
- Vught Lonneke
- Vuotto Fanny
- VĂ©lez VerĂłnica Posada
- Waucquier Nawal
- Wauters Els
- Wauters Joost
- Wauters Joost
- Wauters Joost
- Wiedemann Aurélie
- Wiersinga W. Joost
- Wouters Dorien
- Wu Alan
- Wu Tak-Chiu
- YahĆi Aysun
- Yang Rui
- Yasar Kadriye Kart
- Yazdanpanah Yazdan
- Yazdanpanah Yazdan
- Yepes Jairo David Torres
- Yesilbas Osman
- Yildiz Mehmet
- Young Barnaby
- YĂŒkselmiĆ Ufuk
- Zatz Mayana
- Zatz Mayana
- Zatz Mayana
- Zawadzki Pawel
- Zhang Peng
- Zhang Qian
- Zhang Shen-Ying
- Zhang Yu
- Zimmer Christophe
- Zins Marie
- Zins Marie
- Zuccaro Valentina
- Zwinderman A.
- Ăñigo-Campos Antonio
- Ăz Ćadiye KĂŒbra TĂŒter
- Ăzkan Esra AkyĂŒz
- Ăzçelik Tayfun
- Publication venue
- 'Proceedings of the National Academy of Sciences'
- Publication date
- 24/05/2022
- Field of study
International audienceSignificance There is growing evidence that preexisting autoantibodies neutralizing type I interferons (IFNs) are strong determinants of life-threatening COVID-19 pneumonia. It is important to estimate their quantitative impact on COVID-19 mortality upon SARS-CoV-2 infection, by age and sex, as both the prevalence of these autoantibodies and the risk of COVID-19 death increase with age and are higher in men. Using an unvaccinated sample of 1,261 deceased patients and 34,159 individuals from the general population, we found that autoantibodies against type I IFNs strongly increased the SARS-CoV-2 infection fatality rate at all ages, in both men and women. Autoantibodies against type I IFNs are strong and common predictors of life-threatening COVID-19. Testing for these autoantibodies should be considered in the general population
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
- Author
- Abad Jorge
- Abel Laurent
- Abel Laurent
- Abel Laurent
- Abel Laurent
- Accordino Giulia
- Achille Cristian
- Acosta-Ampudia Yeny
- Agra Juan José Cåceres
- Aguilera-Albesa Sergio
- AguilĂł-Cucurull Aina
- Aiuti Alessandro
- Aiuti Alessandro
- Aiuti Alessandro
- Akcan Ăzge Metin
- Al-Muhsen Saleh
- Al-Mulla Fahd
- Alavoine Loubna
- Albert Matthew
- Albisures Jonathan Antonio Roblero
- Alcover Andres
- Aldave Juan
- Algera Anne Geke
- Aliberti Anna
- Alkan Gulsum
- Alkhater Suzan
- Alkhater Suzan
- Allardet-Servent Jerome
- Allavena Clotilde
- Allende Luis
- Alonso-Arias Rebeca
- Alshahrani Mohammed
- Alsina Laia
- Alvarez Josep Trenado
- Alyanakian Marie-Alexandra
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- Su Helen
- Su Helen
- Su Richa
- Susen Sophie
- Syrigos Konstantinos
- SĂĄnchez-MontalvĂĄ AdriĂĄn
- SĂĄnchez-RamĂłn Silvia
- SĂ€rekannu Karita
- Sözeri BetĂŒl
- SĂžrensen Erik
- Taccone Fabio
- Talouarn Estelle
- Tanaka Junko
- Tancevski Ivan
- Tancevski Ivan
- Tandjaoui-Lambiotte Yacine
- Tandjaoui-Lambiotte Yacine
- Tangy Frédéric
- Tangye Stuart
- Tangye Stuart
- Tardivon Coralie
- Tardy Bernard
- Taupin Jean-Luc
- Tavernier Simon
- Tayoun Ahmad Abou
- Tellier Marie-Capucine
- Terrier Benjamin
- Terrier Olivier
- Teunissen Charlotte
- Tharaux Pierre-Louis
- Thibault Chloé
- Thiery Guillaume
- Thoral Patrick
- Thorball Christian
- Thorn Karolina
- Thumerelle Caroline
- Thy Michael
- Tiberghien Pierre
- Tiberghien Pierre
- Timsit Jean-François
- Tipu Imran
- Tolstrup Martin
- Tolstrup Martin
- Tomasoni Gabriele
- Toubert Antoine
- Toubiana Julie
- Touvier Mathilde
- Townsend Liam
- Triantafyllia Vasiliki
- Trouillet-Assant Sophie
- Trouillet-Assant Sophie
- Troya JesĂșs
- Troya JesĂșs
- Tsang Owen
- Tserel Liina
- Tso Eugene
- Tsonas Anissa
- Tsumura Miyuki
- Tual Christelle
- Tubiana Sarah
- Tubiana Sarah
- Tucci Alessandra
- Tuinman Pieter
- Turvey Stuart
- Tzourio Christophe
- Téoulé François
- Uddin K.
- Uddin Mohammed
- Ungeheuer Marie-Noëlle
- Ursini Matilde Valeria
- Utsumi Takanori
- Uzunhan Yurdagul
- Vabres Pierre
- Valencia-Ramos Juan
- Valsecchi Maria Grazia
- van Agtmael Michiel
- van Baarle Frank
- van Braeckel Eva
- van de Beek Diederik
- van de Beek Diederik
- van de Beek Diederik
- van den Rym Ana Maria
- van der Poll Tom
- van der Valk Marc
- van der Werf Sylvie
- van der Werf Sylvie
- van Mourik Niels
- van Praet Jens
- van Vugt MichĂšle
- Vanderlinden Dimitri
- Vandernoot Isabelle
- Vanel Noémie
- Vasse Marc
- Veelo Denise
- Veislinger Aurélie
- Velez-Santamaria Valentina
- Veliz Silvia Patricia Zuniga
- Venet Fabienne
- Vergara José Alejandro Daza
- Vidaur Loreto
- Vidaur Loreto
- Vidigal Mateus
- Vidigal Mateus
- Viel SĂ©bastien
- Vignali Valérie
- Vilaire-Meunier Marie
- Villain CĂ©dric
- Villar-GarcĂa Judit
- Vincent Audrey
- Vinh Donald
- Vinh Donald
- Visseaux Benoit
- Visseaux Benoit
- Vlaar Alexander
- Vogt Guillaume
- Voiriot Guillaume
- Volleman Carolien
- Volokha Alla
- von Bernuth Horst
- von Stemann Jakob Hjorth
- Vught Lonneke
- Vuotto Fanny
- VĂ©lez VerĂłnica Posada
- Waucquier Nawal
- Wauters Els
- Wauters Joost
- Wauters Joost
- Wauters Joost
- Wiedemann Aurélie
- Wiersinga W. Joost
- Wouters Dorien
- Wu Alan
- Wu Tak-Chiu
- YahĆi Aysun
- Yang Rui
- Yasar Kadriye Kart
- Yazdanpanah Yazdan
- Yazdanpanah Yazdan
- Yepes Jairo David Torres
- Yesilbas Osman
- Yildiz Mehmet
- Young Barnaby
- YĂŒkselmiĆ Ufuk
- Zatz Mayana
- Zatz Mayana
- Zatz Mayana
- Zawadzki Pawel
- Zhang Peng
- Zhang Qian
- Zhang Shen-Ying
- Zhang Yu
- Zimmer Christophe
- Zins Marie
- Zins Marie
- Zuccaro Valentina
- Zwinderman A.
- Ăñigo-Campos Antonio
- Ăz Ćadiye KĂŒbra TĂŒter
- Ăzkan Esra AkyĂŒz
- Ăzçelik Tayfun
- Publication venue
- 'Proceedings of the National Academy of Sciences'
- Publication date
- 24/05/2022
- Field of study
International audienceSignificance There is growing evidence that preexisting autoantibodies neutralizing type I interferons (IFNs) are strong determinants of life-threatening COVID-19 pneumonia. It is important to estimate their quantitative impact on COVID-19 mortality upon SARS-CoV-2 infection, by age and sex, as both the prevalence of these autoantibodies and the risk of COVID-19 death increase with age and are higher in men. Using an unvaccinated sample of 1,261 deceased patients and 34,159 individuals from the general population, we found that autoantibodies against type I IFNs strongly increased the SARS-CoV-2 infection fatality rate at all ages, in both men and women. Autoantibodies against type I IFNs are strong and common predictors of life-threatening COVID-19. Testing for these autoantibodies should be considered in the general population