X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
| Title: | X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 |
|---|---|
| Authors: | Asano T.; Boisson B.; Onodi F.; Matuozzo D.; Moncada-Velez M.; Renkilaraj M. R. L. M.; Zhang P.; Meertens L.; Bolze A.; Materna M.; Korniotis S.; Gervais A.; Talouarn E.; Bigio B.; Seeleuthner Y.; Bilguvar K.; Zhang Y.; Neehus A. -L.; Ogishi M.; Pelham S. J.; Le Voyer T.; Rosain J.; Philippot Q.; Soler-Palacin P.; Colobran R.; Martin-Nalda A.; Riviere J. G.; Tandjaoui-Lambiotte Y.; Chaibi K.; Shahrooei M.; Darazam I. A.; Olyaei N. A.; Mansouri D.; Hatipoglu N.; Palabiyik F.; Ozcelik T.; Novelli G.; Novelli A.; Casari G.; Aiuti A.; Carrera P.; Bondesan S.; Barzaghi F.; Rovere-Querini P.; Tresoldi C.; Franco J. L.; Rojas J.; Reyes L. F.; Bustos I. G.; Arias A. A.; Morelle G.; Kyheng C.; Troya J.; Planas-Serra L.; Schluter A.; Gut M.; Pujol A.; Allende L. M.; Rodriguez-Gallego C.; Flores C.; Cabrera-Marante O.; Pleguezuelo D. E.; Diego R. P. D.; Keles S.; Aytekin G.; Akcan O. M.; Bryceson Y. T.; Bergman P.; Brodin P.; Smole D.; Smith C. I. E.; Norlin A. -C.; Campbell T. M.; Covill L. E.; Hammarstrom L.; Pan-Hammarstrom Q.; Abolhassani H.; Mane S.; Marr N.; Ata M.; Ali F. A.; Khan T.; Spaan A. N.; Dalgard C. L.; Bonfanti P.; Biondi A.; Tubiana S.; Burdet C.; Nussbaum R.; Kahn-Kirby A.; Snow A. L.; Bustamante J.; Puel A.; Boisson-Dupuis S.; Zhang S. -Y.; Beziat V.; Lifton R. P.; Bastard P.; Notarangelo L. D.; Abel L.; Su H. C.; Jouanguy E.; Amara A.; Soumelis V.; Cobat A.; Zhang Q.; Casanova J. -L. |
| Contributors: | Asano, T.; Boisson, B.; Onodi, F.; Matuozzo, D.; Moncada-Velez, M.; Renkilaraj, M. R. L. M.; Zhang, P.; Meertens, L.; Bolze, A.; Materna, M.; Korniotis, S.; Gervais, A.; Talouarn, E.; Bigio, B.; Seeleuthner, Y.; Bilguvar, K.; Zhang, Y.; Neehus, A. -L.; Ogishi, M.; Pelham, S. J.; Le Voyer, T.; Rosain, J.; Philippot, Q.; Soler-Palacin, P.; Colobran, R.; Martin-Nalda, A.; Riviere, J. G.; Tandjaoui-Lambiotte, Y.; Chaibi, K.; Shahrooei, M.; Darazam, I. A.; Olyaei, N. A.; Mansouri, D.; Hatipoglu, N.; Palabiyik, F.; Ozcelik, T.; Novelli, G.; Novelli, A.; Casari, G.; Aiuti, A.; Carrera, P.; Bondesan, S.; Barzaghi, F.; Rovere-Querini, P.; Tresoldi, C.; Franco, J. L.; Rojas, J.; Reyes, L. F.; Bustos, I. G.; Arias, A. A.; Morelle, G.; Kyheng, C.; Troya, J.; Planas-Serra, L.; Schluter, A.; Gut, M.; Pujol, A.; Allende, L. M.; Rodriguez-Gallego, C.; Flores, C.; Cabrera-Marante, O.; Pleguezuelo, D. E.; Diego, R. P. D.; Keles, S.; Aytekin, G.; Akcan, O. M.; Bryceson, Y. T.; Bergman, P.; Brodin, P.; Smole, D.; Smith, C. I. E.; Norlin, A. -C.; Campbell, T. M.; Covill, L. E.; Hammarstrom, L.; Pan-Hammarstrom, Q.; Abolhassani, H.; Mane, S.; Marr, N.; Ata, M.; Ali, F. A.; Khan, T.; Spaan, A. N.; Dalgard, C. L.; Bonfanti, P.; Biondi, A.; Tubiana, S.; Burdet, C.; Nussbaum, R.; Kahn-Kirby, A.; Snow, A. L.; Bustamante, J.; Puel, A.; Boisson-Dupuis, S.; Zhang, S. -Y.; Beziat, V.; Lifton, R. P.; Bastard, P.; Notarangelo, L. D.; Abel, L. |
| Publisher Information: | American Association for the Advancement of Science |
| Publication Year: | 2021 |
| Subject Terms: | Adolescent; Adult; Aged; 80 and over; Alleles; COVID-19; Child; Preschool; Genetic Diseases; X-Linked; Humans; Immune System Diseases; Infant; Male; Middle Aged; Pedigree; Penetrance; Toll-Like Receptor 7; Young Adult |
| Description: | 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) from a cohort of 1202 male patients aged 0.5 to 99 years (mean, 52.9 years) with unexplained critical COVID-19 pneumonia. None of the 331 asymptomatically or mildly infected male individuals aged 1.3 to 102 years (mean, 38.7 years) tested carry such TLR7 variants (P = 3.5 × 10−5). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n = 2) or moderate (n = 1), severe (n = 1), or critical (n = 1) pneumonia. Two patients from a cohort of 262 male patients with severe COVID-19 pneumonia (mean, 51.0 years) are hemizygous for a deleterious TLR7 variant. The cumulative allele frequency for deleterious TLR7 variants in the male general population is |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000695969700003; volume:6; issue:62; journal:SCIENCE IMMUNOLOGY; https://hdl.handle.net/20.500.11768/120626 |
| DOI: | 10.1126/sciimmunol.abl4348 |
| Availability: | https://hdl.handle.net/20.500.11768/120626; https://doi.org/10.1126/sciimmunol.abl4348 |
| Rights: | info:eu-repo/semantics/openAccess ; license:Creative commons ; license uri:http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.9EB2F454 |
| Database: | BASE |