The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study
Open accessAbstract
Background: Recently, loss-of-function variants in TLR7 were identified in two families in which COVID-19 segregates like an X-linked recessive disorder environmentally conditioned by SARS-CoV-2. We investigated whether the two families represent the tip of the iceberg of a subset of COVID-19 male patients. Methods: This is a nested case-control study in which we compared male participants with extreme phenotype selected from the Italian GEN-COVID cohort of SARS-CoV-2-infected participants (<60 y, 79 severe cases versus 77 control cases). We applied the LASSO Logistic Regression analysis, considering only rare variants on young male subsets with extreme phenotype, picking up TLR7 as the most important susceptibility gene. Results: Overall, we found TLR7 deleterious variants in 2.1% of severely affected males and in none of the asymptomatic participants. The functional gene expression profile analysis demonstrated a reduction in TLR7-related gene expression in patients compared with controls demonstrating an impairment in type I and II IFN responses. Conclusions: Young males with TLR7 loss-of-function variants and severe COVID-19 represent a subset of male patients contributing to disease susceptibility in up to 2% of severe COVID-19. Funding: Funded by private donors for the Host Genetics Research Project, the Intesa San Paolo for 2020 charity fund, and the Host Genetics Initiative. Clinical trial number: NCT04549831 .
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A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
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Self-citationGarg, S., Kim, L., Whitaker, M., O’Halloran, A., Cummings, C., Holstein, R., Prill, M., Chai, S. J., Kirley, P. D., Alden, N. B., et al. (2020) · MMWR. Morbidity and Mortality Weekly Report · doi:10.15585/mmwr.mm6915e3 · Cited by 2,335
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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Self-citationCoronavirus disease 2019 case surveillance—United States, January 22–May 30, 2020.
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Presence of Genetic Variants Among Young Men With Severe COVID-19
van der Made, C. I., Simons, A., Schuurs-Hoeijmakers, J., van den Heuvel, G., Mantere, T., Kersten, S., van Deuren, R. C., Steehouwer, M., van Reijmersdal, S. V., Jaeger, M., et al. (2020) · JAMA · doi:10.1001/jama.2020.13719 · Cited by 789
Cited by
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Asano, T., Boisson, B., Onodi, F., Matuozzo, D., Moncada-Velez, M., Maglorius Renkilaraj, M. R. L., Zhang, P., Meertens, L., Bolze, A., Materna, M., et al. (2021) · Science Immunology · doi:10.1126/sciimmunol.abl4348 · Cited by 403
TLR8 escapes X chromosome inactivation in human monocytes and CD4+ T cells
Youness, A., Cenac, C., Faz-López, B., Grunenwald, S., Barrat, F. J., Chaumeil, J., Mejía, J. E., & Guéry, J.-C. (2023) · Biology of Sex Differences · doi:10.1186/s13293-023-00544-5 · Cited by 58
Metadata
- Authors
- Fallerini, C., Daga, S., Mantovani, S., Benetti, E., Picchiotti, N., Francisci, D., Paciosi, F., Schiaroli, E., Baldassarri, M., Fava, F., Palmieri, M., Ludovisi, S., Castelli, F., Quiros-Roldan, E., Vaghi, M., Rusconi, S., Siano, M., Bandini, M., Spiga, O., Capitani, K., Furini, S., Mari, F., Study, G.-C. M., Valentino, F., Doddato, G., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Croci, S., Meloni, I., Mencarelli, M. A., Lo Rizzo, C., Pinto, A. M., Di Sarno, L., Beligni, G., Tommasi, A., Iuso, N., Montagnani, F., Fabbiani, M., Rossetti, B., Zanelli, G., Bargagli, E., Bergantini, L., D’Alessandro, M., Cameli, P., Bennett, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, F., Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Spertilli, C., Feri, M., Donati, A., Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Romani, D., Piacentini, P., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., Monforte, A. D., Miraglia, F. G., Girardis, M., Venturelli, S., Busani, S., Cossarizza, A., Antinori, A., Vergori, A., Emiliozzi, A., Gabrieli, A., Riva, A., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Baratti, S., Antoni, M. D., Monica, M. D., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Merla, G., Squeo, G. M., Aucella, F., Raggi, P., Marciano, C., Perna, R., Bassetti, M., Di Biagio, A., Sanguinetti, M., Masucci, L., Valente, S., Mandalà, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Martinelli, E., Mancarella, S., Tavecchia, L., Gori, M., Crotti, L., Parati, G., Gabbi, C., Zanella, I., Rizzi, M., Maggiolo, F., Ripamonti, D., Bachetti, T., La Rovere, M. T., Sarzi-Braga, S., Bussotti, M., Chiariello, M., Belli, M. A., Dei, S., Renieri, A., Mondelli, M. U., & Frullanti, E.
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2021-03-02
- Volume
- 10
- ISSN
- 2050-084X (ISSN-L)
- OpenAlex
- W3135463255
- Cited by
- 198
- References
- 6
- FWCI
- 12.66
- Type
- journal article
- Language
- en
- Open access
- gold
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- Fallerini, C., Daga, S., Mantovani, S., Benetti, E., Picchiotti, N., Francisci, D., Paciosi, F., Schiaroli, E., Baldassarri, M., Fava, F., Palmieri, M., Ludovisi, S., Castelli, F., Quiros-Roldan, E., Vaghi, M., Rusconi, S., Siano, M., Bandini, M., Spiga, O., . . . Frullanti, E. (2021). Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study. eLife. https://doi.org/10.7554/elife.67569
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