Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosusThe L840R TLR7 variant is a novel GOF variant promoting SLE

Sethumadhavan, Mariasoosai, Yamakawa et al. report a novel TLR7 gain-of-function (GOF) variant associated with autoimmunity in a male patient, which further highlights TLR7's essential role in SLE pathogenesis. The L840R mutation may increase TLR7 binding with UNC93B1, which is a molecular mechanism...

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Κύριοι συγγραφείς:	Aiswarya Sethumadhavan, Charles Mariasoosai, Natsuko Yamakawa, Nicolas Chamberlain, Matthew A. Deardorff, Shintaro Funaki, Takaki Asano, Jean-Laurent Casanova, Hedieh Torabifard, Bertrand Boisson, Eric Meffre
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Rockefeller University Press 2026-02-01
Σειρά:	Journal of Human Immunity
Διαθέσιμο Online:	https://rupress.org/jhi/article-pdf/doi/10.70962/jhi.20250194/2027388/jhi_20250194.pdf
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