TLR7 gain-of-function genetic variation causes human lupus
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Altmetric Citations
Brown, Grant J; Fernandez De Canete Nieto, Pablo; Wang, Howard; Medhavy, Arti; Bones, Josiah; Roco, Jonathan; He, Yuke; Qin, Yuting; Cappello, Jean; Ellyard, Julia; Bassett, Katharine; Shen, Qian; Burgio, Gaetan; Zhang, Yaoyuan; Turnbull, Cynthia; MENG, Xiangpeng; Wu, Philip; Cho, Vicky; Miosge, Lisa; Andrews, Daniel; Field, Matthew; Tvorogov, Denis; Lopez, Angel F.; Babon, Jeffrey J; López, Cristina; Gónzalez-Murillo, Africa; Garulo, Daniel Clemente; Pascual, Virginia; Levy, Tess; Cook, Matthew; Corry, Ben; Athanasopoulos, Vicki; Vinuesa, Carola
Description
Although circumstantial evidence supports enhanced Toll-like receptor 7 (TLR7) signalling as a mechanism of human systemic autoimmune disease1-7, evidence of lupus-causing TLR7 gene variants is lacking. Here we describe human systemic lupus erythematosus caused by a TLR7 gain-of-function variant. TLR7 is a sensor of viral RNA8,9 and binds to guanosine10-12. We identified a de novo, previously undescribed missense TLR7Y264H variant in a child with severe lupus and additional variants in other...[Show more]
Collections | ANU Research Publications |
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Date published: | 2022 |
Type: | Journal article |
URI: | http://hdl.handle.net/1885/316395 |
Source: | Nature |
DOI: | 10.1038/s41586-022-04642-z |
Access Rights: | Open Access |
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TLR7.pdf | 14.83 MB | Adobe PDF |
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