@article{Matuozzo_D-2023_216640,
title = {Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19},
author = {Matuozzo, D. and Talouarn, E. and Marchal, A. and Zhang, P. and Manry, J. and Seeleuthner, Y. and Zhang, Y. and Bolze, A. and Chaldebas, M. and Milisavljevic, B. and Gervais, A. and Bastard, P. and Asano, T. and Bizien, L. and Barzaghi, F. and Abolhassani, H. and Abou Tayoun, A. and Aiuti, A. and Alavi Darazam, I. and Allende, L. and Alonso-Arias, R. and Arias, A. and Aytekin, G. and Bergman, P. and Bondesan, S. and Bryceson, Y. and Bustos, I. and Cabrera-Marante, O. and Carcel, S. and Carrera, P. and Casari, G. and Chaïbi, K. and Colobran, R. and Condino-Neto, A. and Covill, L. and Delmonte, O. and El Zein, L. and Flores, C. and Gregersen, P. and Gut, M. and Haerynck, F. and Halwani, R. and Hancerli, S. and Hammarström, L. and Hatipoglu, N. and Karbuz, A. and Keles, S. and Kyheng, C. and Leon-Lopez, R. and Franco, J. and Mansouri, D. and Martinez-Picado, J. and Metin Akcan, O. and Migeotte, I. and Morange, P. and Morelle, G. and Martín-Nalda, A. and Novelli, G. and Novelli, A. and Özçelik, T. and Palabiyik, F. and Pan-Hammarström, Q. and de Diego, R. and Planas-Serra, L. and Pleguezuelo, D. and Prando, C. and Pujol, A. and Reyes, L. and Rivière, J. and Rodríguez-Gallego, C. and Rojas, J. and Rovere-Querini, P. and Schlüter, A. and Shahrooei, M. and Sobh, A. and Soler-Palacín, P. and Tandjaoui-Lambiotte, Y. and Tipu, I. and Tresoldi, C. and Troya, J. and van de Beek, D. and Zatz, M. and Zawadzki, P. and Al-Muhsen, S. and Alosaimi, M. and Alsohime, F. and Baris-Feldman, H. and Butte, M. and Constantinescu, S. and Cooper, M. and Dalgard, C. and Fellay, J. and Heath, J. and Lau, Y. and Lifton, R. and Maniatis, T. and Mogensen, T. and von Bernuth, H. and Lermine, A. and Vidaud, M. and Boland, A. and Deleuze, J. and Nussbaum, R. and Kahn-Kirby, A. and Mentre, F. and Tubiana, S. and Gorochov, G. and Tubach, F. and Hausfater, P. and Meyts, I. and Zhang, S. and Puel, A. and Notarangelo, L. and Boisson-Dupuis, S. and Su, H. and Boisson, B. and Jouanguy, E. and Casanova, J. and Zhang, Q. and Abel, L. and Cobat, A. and Covid Human Genetic Effort and COVIDeF Study Group and French Covid Cohort Study and COV-Contact-Cohort and COVID-Storm Clinicians and Covid Clinicians and Orchestra Working Group and Amsterdam UMC COVID-19 Biobank and NIAID-USUHS Covid Study Group},
month = {apr},
year = {2023},
abstract = {Background 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.},
volume = {15},
journal = {Genome Medicine},
publisher = {Springer Nature},
url = {https://doi.org/10.1186/s13073-023-01173-8},
}
