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Rare predicted loss...
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Matuozzo, Daniela
(author)
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
- Article/chapterEnglish2023
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LIBRIS-ID:oai:gup.ub.gu.se/331645
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https://gup.ub.gu.se/publication/331645URI
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https://doi.org/10.1186/s13073-023-01173-8DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:153579619URI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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We 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~80% of cases.We 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.No 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=1.1×10-4) 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=2.1×10-4). 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=3.4×10-3), 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=7.7×10-8). 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=1.68×10-5).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 60years old.
Subject headings and genre
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Talouarn, Estelle
(author)
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Marchal, Astrid
(author)
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Zhang, Peng
(author)
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Manry, Jeremy
(author)
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Seeleuthner, Yoann
(author)
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Zhang, Yu
(author)
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Bolze, Alexandre
(author)
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Chaldebas, Matthieu
(author)
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Milisavljevic, Baptiste
(author)
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Gervais, Adrian
(author)
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Bastard, Paul
(author)
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Asano, Takaki
(author)
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Bizien, Lucy
(author)
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Barzaghi, Federica
(author)
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Abolhassani, HassanKarolinska Institutet
(author)
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Abou Tayoun, Ahmad
(author)
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Aiuti, Alessandro
(author)
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Alavi Darazam, Ilad
(author)
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Allende, Luis M
(author)
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Alonso-Arias, Rebeca
(author)
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Arias, Andrés Augusto
(author)
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Aytekin, Gokhan
(author)
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Bergman, PeterKarolinska Institutet
(author)
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Bondesan, Simone
(author)
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Bryceson, Yenan TKarolinska Institutet
(author)
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Bustos, Ingrid G
(author)
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Cabrera-Marante, Oscar
(author)
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Carcel, Sheila
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Carrera, Paola
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Casari, Giorgio
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Chaïbi, Khalil
(author)
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Colobran, Roger
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Condino-Neto, Antonio
(author)
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Covill, Laura EKarolinska Institutet
(author)
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Delmonte, Ottavia M
(author)
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El Zein, Loubna
(author)
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Flores, Carlos
(author)
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Gregersen, Peter K
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Gut, Marta
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Haerynck, Filomeen
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Halwani, Rabih
(author)
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Hancerli, Selda
(author)
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Hammarström, LennartKarolinska Institutet
(author)
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Hatipoğlu, Nevin
(author)
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Karbuz, Adem
(author)
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Keles, Sevgi
(author)
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Kyheng, Christèle
(author)
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Leon-Lopez, Rafael
(author)
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Franco, Jose Luis
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Mansouri, Davood
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Martinez-Picado, Javier
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Metin Akcan, Ozge
(author)
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Migeotte, Isabelle
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Morange, Pierre-Emmanuel
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Morelle, Guillaume
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Martin-Nalda, Andrea
(author)
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Novelli, Giuseppe
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Novelli, Antonio
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Ozcelik, Tayfun
(author)
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Palabiyik, Figen
(author)
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Pan-Hammarström, QiangKarolinska Institutet
(author)
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de Diego, Rebeca Pérez
(author)
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Planas-Serra, Laura
(author)
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Pleguezuelo, Daniel E
(author)
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Prando, Carolina
(author)
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Pujol, Aurora
(author)
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Reyes, Luis Felipe
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Rivière, Jacques G
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Rodriguez-Gallego, Carlos
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Rojas, Julian
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Rovere-Querini, Patrizia
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Schlüter, Agatha
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Shahrooei, Mohammad
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Sobh, Ali
(author)
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Soler-Palacin, Pere
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Tandjaoui-Lambiotte, Yacine
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Tipu, Imran
(author)
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Tresoldi, Cristina
(author)
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Troya, Jesus
(author)
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van de Beek, Diederik
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Zatz, Mayana
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Zawadzki, Pawel
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Al-Muhsen, Saleh Zaid
(author)
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Alosaimi, Mohammed Faraj
(author)
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Alsohime, Fahad M
(author)
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Baris-Feldman, Hagit
(author)
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Butte, Manish J
(author)
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Constantinescu, Stefan N
(author)
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Cooper, Megan A
(author)
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Dalgard, Clifton L
(author)
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Fellay, Jacques
(author)
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Heath, James R
(author)
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Lau, Yu-Lung
(author)
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Lifton, Richard P
(author)
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Maniatis, Tom
(author)
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Mogensen, Trine H
(author)
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von Bernuth, Horst
(author)
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Lermine, Alban
(author)
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Vidaud, Michel
(author)
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Boland, Anne
(author)
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Deleuze, Jean-François
(author)
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Nussbaum, Robert
(author)
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Kahn-Kirby, Amanda
(author)
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Mentre, France
(author)
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Tubiana, Sarah
(author)
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Gorochov, Guy
(author)
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Tubach, Florence
(author)
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Hausfater, Pierre
(author)
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Ekwall, Olov,1968Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Clinical Sciences, Department of Pediatrics,Institute of Medicine, Department of Rheumatology and Inflammation Research(Swepub:gu)xekwol
(author)
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Meyts, Isabelle
(author)
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Zhang, Shen-Ying
(author)
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Puel, Anne
(author)
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Notarangelo, Luigi D
(author)
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Boisson-Dupuis, Stephanie
(author)
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Su, Helen C
(author)
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Boisson, Bertrand
(author)
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Jouanguy, Emmanuelle
(author)
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Casanova, Jean-Laurent
(author)
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Zhang, Qian
(author)
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Abel, Laurent
(author)
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Cobat, Aurélie
(author)
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Karolinska InstitutetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik
(creator_code:org_t)
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In:Genome medicine15:11756-994X
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