2 research outputs found
RFC1: Motifs and phenotypes.
- Author
- Publication venue
- Elsevier Masson
- Publication date
- 17/04/2024
- Field of study
International audienceBiallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause of late-onset ataxia. Since their first description, the phenotypes, neurological damage, and pathogenic variants associated with the RFC1 gene have been frequently updated. Here, we review the various motifs, genetic variants, and phenotypes associated with the RFC1 gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024. The motifs and phenotypes associated with the RFC1 gene are highly heterogeneous, making molecular diagnosis and clinical screening and investigation challenging. In this review we will provide clues to give a better understanding of RFC1 disease. We briefly discuss new methods for molecular diagnosis, the origin of cough in RFC1 disease, and research perspectives
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
- Author
- Abad Jorge
- Abad Sebastien
- Abassi Radhiya
- Abdelhadi Nour Mekki
- Abdellaoui Abdelrafie
- Abdelmalek Abdelkrim
- Abdoul Hendy
- Abel Laurent
- Abel Laurent
- Abel Laurent
- Abel Laurent
- Abergel Helene
- Abeud Fariza
- Abgrall Sophie
- Abisror Noemie
- Abolhassani Hassan
- Abou Tayoun Ahmad
- Accordino Giulia
- Achille Cristian
- Adechian Marylise
- Aderdour Nordine
- Admane Hakeem Farid
- Adnet Frederic
- Afritt Sara
- Agostini Helene
- Agra Juan José Cáceres
- Aguilar Claire
- Aguilera-Albesa Sergio
- AguilĂł-Cucurull Aina
- Agut Sophie
- Aiello Tommaso Francesco
- Aiuti Alessandro
- Ajeenthiravasan Gokula
- Akcan Ă–zge Metin
- Al-Muhsen Saleh
- Al-Muhsen Saleh Zaid
- Al-Mulla Fahd
- Alauzy Virginie
- Alavi Darazam Ilad
- Alavoine Loubna
- Alba Camille
- Albisures Jonathan Antonio Roblero
- Alby-Laurent Fanny
- Aldave Juan C.
- Algera Anne Geke
- Aliberti Anna
- Alkan Gulsum
- AlKhater Suzan A.
- Allard Lucie
- Allardet-Servent Jerome
- Allende Luis M.
- Alonso-Arias Rebeca
- Alosaimi Mohammed Faraj
- Alshahrani Mohammed S.
- Alsina Laia
- Alsohime Fahad M.
- Alvarez Josep Trenado
- Alyanakian Marie-Alexandra
- Alyanakian Marie-Alexandra
- Amam Sabrina
- Amara Yasmina Ould
- Amat Karine
- Amoura Zahir
- Amrouche Lucile
- Amsterdam UMC Covid-19 Biobank [missing]
- Anderson Mark S.
- Andreakos Evangelos
- Andrejak Claire
- Andronikof Marc
- Anglicheau Dany
- Angoulvant François
- Anguel Nadia
- Annane Djillali
- AntolĂ Arnau
- Aounzou Mohammed
- Aparicio Caroline
- Appelman Brent
- Aratus Gladys
- Arias Andrés A.
- Arias Andrés Augusto
- Arlet Jean-Benoit
- Arquero Miguel Fernandez
- Arranz MarĂa JesĂşs
- Arrestier Romain
- Arzoine Jeremy
- Asano Takaki
- Aslangul Elisabeth
- Assefi Mona
- Aubart MĂ©lodie
- Aubry Adeline
- Audiffred Laetitia
- Audureau Etienne
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- Avramenko Iryna
- Awotar Celine
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- Aytekin Gökhan
- Aytekin Selma Erol
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- Bajolle Fanny
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- Barget Nathalie
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- Barrou Benoit
- Barthelemy Romain
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- Basmaci Romain
- Basso Sabrina
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- Baudel Jean-Luc
- Baudry Camille
- Baudry Elodie
- Bauters Fre
- Bax Diane
- Bayhan Gulsum Iclal
- Beaugerie Laurent
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- Behillil Sylvie
- Belamri Adel
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- Challal Salima
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- Chebbout Kamélia
- Cheng Matthew P.
- Cherai Mustapha
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- Chirouze Catherine
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- Citerio Giuseppe
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- Clavé Père
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- Comparon Celine
- Condino-Neto Antonio
- Constantin Jean-Michel
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- Cooper Megan A.
- Cordel Hugues
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- Corsico Angelo G.
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- Couffignal Camille
- Couffin-Cadiergues Sandrine
- Couffin-Cadiergues Sandrine
- Coupeau Doriane
- CoV-Contact Cohort [missing]
- COVID Clinicians [missing]
- COVID Human Genetic Effort [missing]
- COVID-STORM Clinicians [missing]
- COVIDeF Study Group [missing]
- Covill Laura E.
- CoĹźkuner Taner
- Creange Alain
- Cuadros Esmeralda Nuñez
- Cvetkovski Aleksandar
- Cyrus Cyril
- Da Silveira Charlène
- Dalgard Clifton L.
- Dalmau David
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- Danion François
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- Das Vincent
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- De Bouille Jeanne Goupil
- de Brabander Justin
- de Bree Godelieve
- de Bruin Sanne
- De Castro Nathalie
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- de Chambrun Marc Pineton
- de Diego Rebeca PĂ©rez
- De Farcy Pauline Mary
- de Jong Menno D.
- De Munter Paul
- de Pontual Loic
- de Rotte Maurits C. F. J.
- De Rycke Yann
- de Vera MartĂn Castillo
- de Vries Heder
- Debray Marie-Pierre
- Dechanet Aline
- Declercq Jozefien
- Deconinck Lauren
- Dehban Amin
- Del Pozo Lucie
- del Prado Maria Yolanda Ruiz
- Delannoy Quentin
- Delay Mathieu
- Deleris Robin
- Deleuze Jean-François
- Delforge Juliette
- Delmonte Ottavia M.
- Delphine Laëtitia
- Delplancq Geoffroy
- Demar Magalie
- Demare Noemie
- Demeret Sophie
- Demerville Lauren
- Demirkol Yasemin Kendir
- Demoule Alexandre
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- Deniau Aurore
- Deplanque Dominique
- Deplanque Dominique
- Depret François
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- Dropy Margot
- Drouet Elodie
- Dubos François
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- Fung Kitty S. C.
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- Garnier Marc
- Garçon Pierre
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- Goas Carole L. E.
- GodĂnez Karen Alejandra Cifuentes
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- Grimaldi Lamiae
- Grobusch Martin P.
- Guedeney Paul
- Guedj Jérémie
- Guerder Antoine
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- Hagin David
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- Harris Vanessa
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- HatipoÄźlu Nevin
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- Hautem Coraline
- Heath James R.
- Heijmans Catherine
- Hekimian Guillaume
- Heming Nicholas
- Hemke Robert
- Hendou Samia
- Henrickson Sarah E.
- Heppekcan Deniz
- Hermine Olivier
- Hernandez-Brito Elisa
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- Horn Janneke
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- Hoste Levi
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- Houhou Nadhira
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- Hraiech Sami
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- Hulot Jean-SĂ©bastien
- Humbert Linda
- Hung Ivan F. N.
- Huot Benjamin
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- Iglesias Alejandro D.
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- Jeulin Hélène
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- Ku Cheng-Lung
- Kuentz Paul
- Kwan Arthur M. C.
- Kwan Yat Wah M.
- Kwok Janette S. Y.
- Kyheng Christèle
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- Lack Justin
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- Lacorte Jean-Marc
- Lafont Anne Gaelle
- Lafont Emmanuel
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- Lagier Jean-Christophe
- Laine Fabrice
- Lam David S. Y.
- Lamarre Yannie Cuvillier
- Lambrecht Bart
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- Landman Cecilia
- Lanternier Fanny
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- Laverdant Benjamin
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- Le Minh
- Leberre Lamia
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- Lefebvre Marylou
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- Leprieur Bénédicte Giroux
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- Lorenzo-Salazar José M.
- Lortholary Olivier
- Louadah Badr
- Louapre CĂ©line
- Loze Bénédicte
- Lubetzki Catherine
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- Lucas Carrie L.
- Lucas Marie-Laure
- Lucasamichi Axelle
- Lucet Jean Christophe
- Lucet Jean-Christophe
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- Luong Liem Binh
- Luyt Charles-Edouard
- Lye David C.
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- Mathian Alexis
- Matos Larissa R. B.
- Matthews Gail V.
- Mattiaccio Alessandro
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- Mebazaa Alexandre
- Mechai Frédéric
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- Mentre France
- Mentré France
- Merbah Soraya
- Mergeay-Fabre Mayka
- Meritet Jean-François
- Merlani Paolo
- Messani Fadhila
- Messaoudi Yasmine
- Metin Akcan Ozge
- Meunier Alexandre
- Mewasing Baboo-Irwinsingh
- Meyts Isabelle
- Meyts Isabelle
- Meyts Isabelle
- Meziane Amina
- Meziane Lydia
- Mezidi Mehdi
- Michelot-Burger Carole
- Migaud Maria-Claire
- Migeotte Isabelle
- Mignot Françoise
- Milisavljevic Baptiste
- Milla Sonia Ayllon
- Millereux Maude
- Million Matthieu
- Milner Joshua D.
- Minka Fadi Hillary
- Mirault Tristan
- Mircher Clotilde
- Mironska Kristina
- Mirsaeidi Mehdi
- Miyara Makoto
- Mizoguchi Yoko
- Modi Bhavi P.
- Mogensen Trine H.
- Moine Pierre
- Mojoli Francesco
- Molina Jean-Michel
- Moncomble Elsa
- Monnory Fatima-Zohra Djamouri
- Montagne Samatha
- Montegnies-Boulet AnaĂŻs
- Monti Alexandra
- Montlahuc Claire
- Montout Anne-Lise
- Moores Alexandre
- Morandeira Francisco
- Morange Pierre-Emmanuel
- Morbieu Caroline
- Mordacq Cléemence
- Morelle Guillaume
- Morio Tomohiro
- Mortelette Helene
- Mouly Stéphane
- Mouly Stéphane J.
- Mouquet Hugo
- Mullaert Jimmy
- Muzaffar Rosita
- Muñoz-Barrera Adrián
- Mège Jean-Louis
- Nacerddine Cherifa Iness
- Nadal Marine
- Nadif Hajer
- Nadji Seyed Alireza
- Naesens Leslie
- Nafati Cyril
- Nagashima Shintaro
- Nakagama Yu
- Narvaez Rafael Usubillaga
- Nassarmadji Kladoum
- Natella Pierre
- Ndingamondze Sandrine
- Neant Nadège
- Nellen Jeaninne
- Neraal Stefan
- Neven Bénédicte
- Neves JoĂŁo Farela
- Ng Lisa F. P.
- Ng Lisa F. P.
- Ng Yuk-Yung
- Nguyen Caroline
- Nguyen Duc
- Nguyen Duc
- NIAID-USUHS COVID Study Group [missing]
- Nicolas Leturque
- Nielly hubert
- Nlomenyengue Luc
- Noel Nicolas
- Noret Marion
- Nossent Esther J.
- Notarangelo Luigi D.
- Notarangelo Luigi D.
- Nouroudine Mariama
- Novelli Antonio
- Novelli Giuseppe
- Nseir Saad
- Nunes Hilario
- Nussbaum Robert
- N’Guyen Bao
- Ocejo-Vinyals J. Gonzalo
- Okada Satoshi
- Okamoto Keisuke
- Oler Andrew J.
- Omar Edris
- Orchestra Working Group [missing]
- Oualha Mehdi
- Ouazene Zineb
- Ouedrani Amani
- Ouedraogo Elise
- Ouelaa Wassila
- Oufella Hafid Ait
- Oukhedouma Anissa
- Oya Herve
- Ozcelik Tayfun
- Oziel Johanna
- Ozkaya-Parlakay Aslinur
- O’Farrelly Cliona
- Padilla Thomas
- Pagani Michele
- Paillaud Elena
- Paiva Solenne
- Palabiyik Figen
- Pan-Hammarström Qiang
- Papadaki Maria
- Papadopoulos Aurélie
- Parfait Beatrice
- Paris Christophe
- Parize Perrine
- Parizot Christophe
- Parizot Christophe
- Parola Philippe
- Parrot Antoine
- Pascreau Tiffany
- Paul Christelle
- Paul Stéphane
- Paulus Frederique
- Pavot Arthur
- Payet Christine
- Paz-Artal Estela
- Peaudecerf Laetitia
- Pedraza Sigifredo
- Peiffer-Smadja Nathan
- Pellecer Nancy Carolina González
- Pellegrini Silvia
- Pene Frédéric
- Pepin Marion
- Pereira Jesus Marquez
- Pernet Julie
- Pernin Claire
- Perpoint Thomas
- Perreau Pauline
- Pesci Alberto
- Peters Edgar
- Petit Mylène
- Petrov-Sanchez Ventzislava
- Peyrony Olivier
- Peytavin Gilles
- Pham Huong
- Philippe Aurélien
- Philippot Quentin
- Picod Adrien
- Picone Olivier
- Pietri Marie-Pierre
- Pietri Olivia
- Pina-Fuentes Dan A. I.
- Pinson Michelle
- Pintado Claire
- Pippucci Tommaso
- Piquard Valentine
- Piquard Valentine
- Piquard Valentine
- Piralla Antonio
- Pires Christine
- Pistone Thierry
- Planas Anna M.
- Planas-Serra Laura
- Planquette Benjamin
- Pleguezuelo Daniel E.
- Ploin Dominique
- Poirier Sandrine
- Poissy Julien
- Pomel Anne-Laure
- Poncelet GĂ©raldine
- Pons Stéphanie
- Ponscarme Diane
- Poulakou Garyphallia
- Pouletty Marie S.
- Pourcelot Annegaelle
- Pourcher Valérie
- Pourshahnazari Persia
- Pouvaret Anne
- Prando Carolina
- Preckel Bennedikt
- Prever Florian
- Previlon Miresta
- Prevost Margot
- Prins Jan M.
- Provoost Marie-Julie
- Puel Anne
- Pueyo David MartĂnez
- Pujol Aurora
- Puéchal Oriane
- Pérez-Fernández Xosé Luis
- Qiu-Chen Jia Li
- Quaresima Virginia
- Quemeneur Cyril
- Quentric Paul
- Quintana-Murci Lluis
- Quintin Caroline
- Quiros-Roldan Eugenia
- Raasveld Jorinde
- Rabaud Christian
- Rafat CĂ©dric
- Ramaswamy Sathishkumar
- Rambaud Thomas
- Rami Agathe
- Ramos Miquel Alfonso
- Ranque Brigitte
- Raoult Didier
- Raoult Violette
- Raphael Maurice
- Raphalen Jean Herle
- Rastoin Anna
- Raux Mathieu
- Rebai Amani
- Rebillat Anne-Sophie
- Reby Michael
- Redin Claire
- Regent Alexis
- Regrag Asma
- Reijnders Tom
- Renia Laurent
- Resche-Rigon Matthieu
- Resmini LĂ©a
- Resnick Igor
- Ressaire Quentin
- Reyes Luis Felipe
- Ricart Pilar
- Richard Christian
- Richard Jean-Christophe
- Richard Lucie
- Richard Mariecaroline
- Rigo-Bonnin RaĂşl
- rivet Nadia
- Rivière Jacques G.
- Robert Maxence
- Rocamora-Blanch Gemma
- Rodero Mathieu P.
- Rodrigo Carlos
- Rodriguez Luis Antonio
- Rodriguez-Gallego Carlos
- Rodriguez-Palmero AgustĂ
- RodrĂguez-Gallego Carlos
- Rohaut Benjamin
- Rojas Julian
- Rolland-Debord Camille
- Romero Carolina Soledad
- Ropers Jacques
- Roque-Afonso Anne-Marie
- Rosa-Calatrava Manuel
- Rosenberger John
- Rossi Camillo
- Rossignol Bénédicte
- Rossignol Patrick
- Rosso Charlotte
- Rothenbuhler Anya
- Roufai Layidé
- Rousseaux MĂ©lanie
- Rousseaux Nabila
- Roux Damien
- Roux Lorène
- Roux Swasti
- Rouzaud Claire
- Rovere-Querini Patrizia
- Rovina Nikoletta
- Roy Carine
- Rozenberg Flore
- Rozes Antoine
- Rubenstein Emma
- Ruch Yvon
- Ruiz Montse
- Ruiz-Rodriguez Juan Carlos
- Sabate Jean-Marc
- Sabater-Riera Joan
- Sabet Sheila
- Sacleux Sophie-Caroline
- Saied Wafa Ibn
- Saks Kai
- Salagianni Maria
- Saliba Faouzi
- Salmon Dominique
- Sanchez Oliver
- Sancho-Shimizu Vanessa
- Savale Laurent
- Savary Guillaume
- Sberro Rebecca
- Scemla Anne
- Schidlowski Laire
- Schinkel Michiel
- Schlemmer Frederic
- Schluter Agatha
- SchlĂĽter Agatha
- Schmidt Julien
- Schmidt Matthieu
- Schneider Marion
- Schrauwen Femke A. P.
- Schuetz Catharina
- Schultz Marcus J.
- Schuurmans Alex
- Schuurmans Jaap
- Schwartz Mathieu
- Schweitzer Cyril E.
- Scolari Francesco
- Sedfi SaĂŻd
- Sediva Anna
- Sediva Anna
- Seeleuthner Yoann
- Sefir-Kribel Samia
- Seijo Luis
- Seksik Philippe
- Sellier Pierre
- Selves Agathe
- Sembach Nicole
- Semerano Luca
- Seminario Analia Gisela
- Senat Marie-Victoire
- Sene Damien
- Sene Damien
- Seng Piseth
- Senoglu Sevtap
- Seppänen Mikko
- Seppänen Mikko R. J.
- Seri Marco
- Serris Alexandra
- Sese Lucile
- Sghiouar Naima
- Shahrooei Mohammad
- Shcherbina Anna
- Shcherbina Anna
- Sigaloff Kim
- Sigaux Johanna
- Siguier Martin
- Siguret Virginie
- Silvain Johanne
- Simon Noémie
- Simon Tabassome
- Siouti Eleni
- Skandri Lina Innes
- Slabbynck Hans
- Slaby Ondrej
- Slim Marleen A.
- Slimani Miassa
- Smadja David M.
- Smeele Patrick
- Smit Marry
- Smith Nikaia
- Snauwaert Aurélie
- Snow Andrew L.
- Snow Andrew L.
- Sobh Ali
- Sokol Harry
- Solanich Xavier
- Soler Catherine
- Soler-Palacin Pere
- Soler-PalacĂn Pere
- Soler-PalacĂn Pere
- Soliman Heithem
- Solis Blanca Garcia
- Soltani Nisrine
- Solé-Violán Jordi
- Sottini Alessandra
- Soyer Benjamin
- Sozeri Betul
- Spaan András N.
- Steg Gabriel
- Stella Giulia Maria
- Stepanovskiy Yuriy
- Stijnis Cornelis S.
- Stilma Willemke
- Stoclin Annabelle
- Su Helen C.
- Su Helen C.
- Su Richa
- Suarez Lydia
- Sukumar Gauthaman
- Szwebel Tali-Anne
- Sánchez-Montalvá Adrián
- Sánchez-Ramón Silvia
- Sözeri Betül
- Taccone Fabio
- Tacconelli Evelina
- Taffame Kossi
- Talouarn Estelle
- Tancevski Ivan
- Tandjaoui-Lambiotte Yacine
- Tangye Stuart G.
- Tantet Claire
- Tardivon Coralie
- Tardy Bernard
- Tateo Mariagrazia
- Taupin Jean-Luc
- Tavernier Simon
- Tellier Marie-Capucine
- Tello Loreto Vidaur
- Terrier Benjamin
- Terrier Olivier
- Teunissen Charlotte
- Theodose Igor
- Thiebaud Pierre clement
- Thiery Guillaume
- Thomas Caroline
- Thoral Patrick
- Thorball Christian
- Thorn Karolina
- Thumerelle Caroline
- Thy Michael
- Tiercelet Kelly
- Timsit Jean-François
- Tipu Imran
- Tisserand Julie
- Tolstrup Martin
- Tomasoni Gabriele
- Tomczak Carole
- Tompkins Miranda F.
- Torelino Krystel
- Touam-Ext Fatima
- Toubiana Julie
- Toumi Lilia
- Toury Gustave
- Toy-Miou Mireille
- Trandinh Alexy
- Treluyer Jean-Marc
- Tresoldi Cristina
- Triantafyllia Vasiliki
- Trinque Baptiste
- Trouillet-Assant Sophie
- Troya Jesus
- Troya JesĂşs
- Truchot Jennifer
- Tsang Owen T. Y.
- Tserel Liina
- Tso Eugene Y. K.
- Tsonas Anissa M.
- Tual Christelle
- Tubach Florence
- Tubiana Sarah
- Tucci Alessandra
- Tuinman Pieter R.
- Tunesi Simone
- Turpin Agathe
- Turpin Matthieu
- Turvey Stuart E.
- Téoulé François
- Uddin Furkan
- Uddin Mohammed J.
- Urbina Tomas
- Ursini Matilde Valeria
- Utsumi Takanori
- Uzunhan Yurdagul
- Uzunhan Yurdagul
- Vabres Pierre
- Vacher Yannick
- Vaittinadaayar Prabakar
- Valencia-Ramos Juan
- Valent Arnaud
- Valentian Maelle
- Valin Nadia
- Vallet Hélène
- 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 Michèle
- Vanderlinden Dimitri
- Vandernoot Isabelle
- Vanel Noémie
- Vaz Marina
- Vazquezibarra Miguel-Alejandro
- Vedie Benoit
- Veelo Denise
- Vega Clara Campos
- Veislinger Aurélie
- Velez-Santamaria Valentina
- Veliz Silvia Patricia Zuniga
- Velly Laetitia
- Verstuyft Celine
- Viallette Cedric
- Vicaut Eric
- Vidaud Michel
- Vidigal Mateus C.
- Viel SĂ©bastien
- Vignali Valérie
- Vignes Dorothee
- Vilaire-Meunier Marie E.
- Villain CĂ©dric
- Villar-GarcĂa Judit
- Vimpere Damien
- Vincent Audrey
- Vinh Donald C.
- Virlouvet Myriam
- Visseaux Benoit
- Visseaux Benoit
- Vlaar Alexander P. J.
- Voiriot Guillaume
- Voiriot Guillaume
- Voisot Lena
- Volleman Carolien
- Volokha Alla
- von Bernuth Horst
- Vught Lonneke A.
- Vuotto Fanny
- Waucquier Nawal
- Wauters Els
- Wauters Joost
- Weiss Emmanuel
- Weiss Nicolas
- Wiedemann Aurélie
- Wiersinga W. Joost
- Wilkerson Matthew D.
- Winchenne AnaĂŻs
- Wouters Dorien
- Wu Alan K. L.
- Wu Tak-Chiu
- YahĹźi Aysun
- Yasar Kadriye Kart
- Yazdanpanah Yazdan
- Yazdanpanah Yazdan
- Yesilbas Osman
- Yildiz Mehmet
- Yordanov Youri
- Youkou Christy Gaëlla Kotokpo
- Young Barnaby E.
- Yüksek Saliha Kanık
- YĂĽkselmiĹź Ufuk
- Zafrani Lara
- Zaidan Mohamad
- Zaidi Wissem
- Zak Cathia
- Zarhrate-Ghoul Aida
- Zatout Ouassila
- Zatz Mayana
- Zatz Mayana
- Zatz Mayana
- Zawadzki Pawel
- Zecca Marco
- Zeino Suzanne
- Zeitouni Michel
- Zemirli NaĂŻma
- Zerah Lorene
- Zhang Peng
- Zhang Qian
- Zhang Shen-Ying
- Zhang Xijun
- Zhang Yu
- Zia Ounsa
- Ziol Marianne
- Zolario Oceane
- Zuber Julien
- Zuccaro Valentina
- Zwinderman A. H.
- Íñigo-Campos Antonio
- Ă–z Ĺžadiye KĂĽbra TĂĽter
- Ă–zkan Esra AkyĂĽz
- Özçelik Tayfun
- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 01/01/2023
- Field of study
BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in similar to 80% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P=1.1x10(-4)) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR=3.70[95%CI 1.3-8.2], P=2.1x10(-4)). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR=19.65[95%CI 2.1-2635.4], P=3.4x10(-3)), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR=4.40[9%CI 2.3-8.4], P=7.7x10(-8)). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD]=43.3 [20.3] years) than the other patients (56.0 [17.3] years; P=1.68x10(-5)).ConclusionsRare 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