TLR7 gain-of-function genetic variation causes human lupus

J. Brown, Grant; F. Cañete, Pablo; Wang, Hao; Medhavy, Arti; Bones, Josiah; A. Roco, Jonathan; He, Yuke; Qin, Yuting; Cappello, Jean; I. Ellyard, Julia; Bassett, Katharine; Shen, Qian; Burgio, Gaetan; Zhang, Yaoyuan; Turnbull, Cynthia; Meng, Xiangpeng; Wu, Phil; Cho, Eun; A. Miosge, Lisa; Daniel Andrews, T.; A. Field, Matt; Tvorogov, Denis; F. Lopez, Angel; J. Babon, Jeffrey; Aparicio López, Cristina; Gónzalez-Murillo, África; Clemente Garulo, Daniel; Pascual, Virginia; Levy, Tess; J. Mallack, Eric; G. Calame, Daniel; Lotze, Timothy; R. Lupski, James; Ding, Huihua; R. Ullah, Tomalika; D. Walters, Giles; E. Koina, Mark; C. Cook, Matthew; Shen, Nan; de Lucas Collantes, Carmen; Corry, Ben; P. Gantier, Michael; Athanasopoulos, Vicki; G. Vinuesa, Carola

doi:10.1038/s41586-022-04642-z

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TLR7 gain-of-function genetic variation causes human lupus

Shared by NobleBlocks on Apr 27, 2022 • 12:00 AM UTC

Authors:

Grant J. Brown

Pablo F. Cañete

Hao Wang

Abstract

Abstract Although circumstantial evidence supports enhanced Toll-like receptor 7 (TLR7) signalling as a mechanism of human systemic autoimmune disease 1–7 , evidence of lupus-causing TLR7 gene variants is lacking. Here we describe human systemic lupus erythematosus caused by a TLR7 gain-of-function ...

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