X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

ABSTRACT: Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years)...

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Autores:

Arias Sierra, Andrés Augusto
Moncada Vélez, Marcela
Asano, Takaki
Boisson, Bertrand
Boisson Dupuis, Stéphanie
Bolze, Alexandre
Matuozzo, Daniela
Maglorius Renkilaraj, Majistor Raj Luxman
Zhang, Peng
Meertens, Laurent
Onodi, Fanny
Nussbaum, Robert
Kahn Kirby, Amanda
Snow, Andrew L.
Bustamante, Jacinta
Puel, Anne
Lifton, Richard P.
Bastard, Paul
Notarangelo, Luigi D
Su, Helen C
Jouanguy, Emmanuelle
Amara, Ali
Soumelis, Vassili
Cobat, Aurélie
Zhang, Qian
Casanova, Jean Laurent
Materna, Marie
Korniotis, Sarantis
Gervais, Adrian
Talouarn, Estelle
Bigio, Benedetta
Seeleuthner, Yoann
Bilguvar, Kaya
Zhang, Yu
Neehus, Anna Lena
Ogishi, Masato
Pelham, Simon J.
Le Voyer, Tom
Rosain, Jérémie
Philippot, Quentin
Soler Palacín, Pere
Colobran, Roger
Martin Nalda, Andrea
Rivière, Jacques G.
Tandjaoui Lambiotte, Yacine
Chaïbi, Khalil
Shahrooei, Mohammad
Alavi Darazam, Ilad
Alipour Olyaei, Nasrin
Mansouri, Davood
Hatipoğlu, Nevin
Palabiyik, Figen
Ozcelik, Tayfun
Novelli, Giuseppe
Novelli, Antonio
Casari, Giorgio
Aiuti, Alessandro
Carrera, Paola
Bondesan, Simone
Barzaghi, Federica
Rovere Querini, Patrizia
Tresoldi, Cristina
Franco Restrepo, José Luis
Rojas, Julian
Reyes, Luis Felipe
Bustos, Ingrid G.
Morelle, Guillaume
Guillaume, Morelle
Christèle, Kyheng
Troya, Jesús
Planas-Serra, Laura
Schlüter, Agatha
Pujol, Aurora
Allende, Luis M.
Rodríguez Gallego, Carlos
Flores, Carlos
Cabrera Marante, Oscar
Pleguezuelo, Daniel E.
Pérez de Diego, Rebeca
Keles, Sevgi
Aytekin, Gokhan
Metin Akcan, Ozge
Bryceson, Yenan T.
Bergman, Peter
Brodin, Petter
Smith, C I Edvard
Norlin, Anna Carin
Campbell, Tessa M.
Covill, Laura E.
Hammarström, Lennart
Pan Hammarström, Qiang
Abolhassani, Hassan
Mane, Shrikant
Marr, Nico
Ata, Manar
Al Ali, Fatima
Khan, Taushif
Spaan, András N.
Dalgard, Clifton L.
Bonfanti, Paolo
Biondi, Andrea
Tubiana, Sarah
Burdet, Charles

Tipo de recurso:

Article of investigation

Fecha de publicación:

2021

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/40975

Acceso en línea:

https://hdl.handle.net/10495/40975

Palabra clave:

Alleles
Alelos
COVID-19
Genetic Diseases, X-Linked
Enfermedades Genéticas Ligadas al Cromosoma X
Immune System Diseases
Enfermedades del Sistema Inmune
Penetrance
Penetrancia
Toll-Like Receptor 7
Receptor Toll-Like 7
Middle Aged
Persona de Mediana Edad
Aged, 80 and over
Anciano de 80 o más Años
https://id.nlm.nih.gov/mesh/D000483
https://id.nlm.nih.gov/mesh/D000086382
https://id.nlm.nih.gov/mesh/D040181
https://id.nlm.nih.gov/mesh/D007154
https://id.nlm.nih.gov/mesh/D019683
https://id.nlm.nih.gov/mesh/D051199
https://id.nlm.nih.gov/mesh/D008875
https://id.nlm.nih.gov/mesh/D000369

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/