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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
- Matuozzo, D (author)
- Talouarn, E (author)
- Marchal, A (author)
- show more...
- Manry, J (author)
- Seeleuthner, Y (author)
- Zhang, Y (author)
- Bolze, A (author)
- Chaldebas, M (author)
- Milisavljevic, B (author)
- Zhang, P (author)
- Gervais, A (author)
- Bastard, P (author)
- Asano, T (author)
- Bizien, L (author)
- Barzaghi, F (author)
- Tayoun, AA (author)
- Aiuti, A (author)
- Darazam, IA (author)
- Allende, LM (author)
- Alonso-Arias, R (author)
- Arias, AA (author)
- Aytekin, G (author)
- Bergman, P (author)
- Bondesan, S (author)
- Bryceson, YT (author)
- Bustos, IG (author)
- Cabrera-Marante, O (author)
- Carcel, S (author)
- Carrera, P (author)
- Casari, G (author)
- Chaïbi, K (author)
- Colobran, R (author)
- Condino-Neto, A (author)
- Covill, LE (author)
- El Zein, L (author)
- Flores, C (author)
- Gregersen, PK (author)
- Gut, M (author)
- Haerynck, F (author)
- Halwani, R (author)
- Hancerli, S (author)
- Hammarström, L (author)
- Hatipoğlu, N (author)
- Karbuz, A (author)
- Keles, S (author)
- Kyheng, C (author)
- Leon-Lopez, R (author)
- Franco, JL (author)
- Mansouri, D (author)
- Martinez-Picado, J (author)
- Akcan, OM (author)
- Migeotte, I (author)
- Morange, PE (author)
- Morelle, G (author)
- Martin-Nalda, A (author)
- Novelli, G (author)
- Novelli, A (author)
- Ozcelik, T (author)
- Palabiyik, F (author)
- Pan-Hammarström, Q (author)
- Pérez de Diego, R (author)
- Planas-Serra, L (author)
- Pleguezuelo, DE (author)
- Prando, C (author)
- Pujol, A (author)
- Reyes, LF (author)
- Rivière, JG (author)
- Rodriguez-Gallego, C (author)
- Rojas, J (author)
- Rovere-Querini, P (author)
- Schlüter, A (author)
- Shahrooei, M (author)
- Sobh, A (author)
- Soler-Palacin, P (author)
- Tandjaoui-Lambiotte, Y (author)
- Tipu, I (author)
- Tresoldi, C (author)
- Troya, J (author)
- van de Beek, D (author)
- Zatz, M (author)
- Zawadzki, P (author)
- Al-Muhsen, SZ (author)
- Baris-Feldman, H (author)
- Butte, MJ (author)
- Constantinescu, SN (author)
- Cooper, MA (author)
- Dalgard, CL (author)
- Fellay, J (author)
- Heath, JR (author)
- Lau, YL (author)
- Lifton, RP (author)
- Maniatis, T (author)
- Mogensen, TH (author)
- von Bernuth, H (author)
- Lermine, A (author)
- Vidaud, M (author)
- Boland, A (author)
- Deleuze, JF (author)
- Nussbaum, R (author)
- Kahn-Kirby, A (author)
- Mentre, F (author)
- Tubiana, S (author)
- Gorochov, G (author)
- Tubach, F (author)
- Hausfater, P (author)
- Meyts, I (author)
- Zhang, SY (author)
- Puel, A (author)
- Notarangelo, LD (author)
- Boisson-Dupuis, S (author)
- Su, HC (author)
- Boisson, B (author)
- Jouanguy, E (author)
- Casanova, JL (author)
- Zhang, Q (author)
- Abel, L (author)
- Cobat, A (author)
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- (creator_code:org_t)
- Cold Spring Harbor Laboratory, 2022
- 2022
- English.
- In: medRxiv : the preprint server for health sciences. - : Cold Spring Harbor Laboratory.
- Journal article (other academic/artistic)
Abstract
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- BackgroundWe 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.MethodsWe 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.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants wasTLR7, with an OR of 27.68 (95%CI:1.5-528.7,P=1.1×10−4), in analyses restricted to 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). Adding the recently reportedTYK2COVID-19 locus strengthened this enrichment, particularly under a recessive model (OR=19.65 [95%CI:2.1-2635.4];P=3.4×10−3). When these 14 loci andTLR7were considered, all individuals hemizygous (n=20) or homozygous (n=5) for pLOF or bLOF variants were patients (OR=39.19 [95%CI:5.2-5037.0],P=4.7×10−7), who also showed an enrichment in heterozygous variants (OR=2.36 [95%CI:1.0-5.9],P=0.02). Finally, the patients with pLOF or 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).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.
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- vet (subject category)
- art (subject category)
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- medRxiv : the preprint server for health sciences (Search for host publication in LIBRIS)
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- By the author/editor
- Matuozzo, D
- Talouarn, E
- Marchal, A
- Manry, J
- Seeleuthner, Y
- Zhang, Y
- show more...
- Bolze, A
- Chaldebas, M
- Milisavljevic, B
- Zhang, P
- Gervais, A
- Bastard, P
- Asano, T
- Bizien, L
- Barzaghi, F
- Abolhassani, H
- Tayoun, AA
- Aiuti, A
- Darazam, IA
- Allende, LM
- Alonso-Arias, R
- Arias, AA
- Aytekin, G
- Bergman, P
- Bondesan, S
- Bryceson, YT
- Bustos, IG
- Cabrera-Marante, ...
- Carcel, S
- Carrera, P
- Casari, G
- Chaïbi, K
- Colobran, R
- Condino-Neto, A
- Covill, LE
- El Zein, L
- Flores, C
- Gregersen, PK
- Gut, M
- Haerynck, F
- Halwani, R
- Hancerli, S
- Hammarström, L
- Hatipoğlu, N
- Karbuz, A
- Keles, S
- Kyheng, C
- Leon-Lopez, R
- Franco, JL
- Mansouri, D
- Martinez-Picado, ...
- Akcan, OM
- Migeotte, I
- Morange, PE
- Morelle, G
- Martin-Nalda, A
- Novelli, G
- Novelli, A
- Ozcelik, T
- Palabiyik, F
- Pan-Hammarström, ...
- Pérez de Diego, ...
- Planas-Serra, L
- Pleguezuelo, DE
- Prando, C
- Pujol, A
- Reyes, LF
- Rivière, JG
- Rodriguez-Galleg ...
- Rojas, J
- Rovere-Querini, ...
- Schlüter, A
- Shahrooei, M
- Sobh, A
- Soler-Palacin, P
- Tandjaoui-Lambio ...
- Tipu, I
- Tresoldi, C
- Troya, J
- van de Beek, D
- Zatz, M
- Zawadzki, P
- Al-Muhsen, SZ
- Baris-Feldman, H
- Butte, MJ
- Constantinescu, ...
- Cooper, MA
- Dalgard, CL
- Fellay, J
- Heath, JR
- Lau, YL
- Lifton, RP
- Maniatis, T
- Mogensen, TH
- von Bernuth, H
- Lermine, A
- Vidaud, M
- Boland, A
- Deleuze, JF
- Nussbaum, R
- Kahn-Kirby, A
- Mentre, F
- Tubiana, S
- Gorochov, G
- Tubach, F
- Hausfater, P
- Meyts, I
- Zhang, SY
- Puel, A
- Notarangelo, LD
- Boisson-Dupuis, ...
- Su, HC
- Boisson, B
- Jouanguy, E
- Casanova, JL
- Zhang, Q
- Abel, L
- Cobat, A
- show less...
- Articles in the publication
- medRxiv : the pr ...
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- Karolinska Institutet
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