Open access
Aug 2026
The private truncating Toll-like receptor 7 p.Glu834* variant associates with juvenile-onset systemic lupus erythematosus and pathological cytokine expression in vitro.
OBJECTIVES The X chromosome-linked Toll-like receptor (TLR)7 gene contributes to type I interferon (IFN) expression in systemic lupus erythematosus (SLE). Recently, ultra-rare variants in TLR7 have been linked with Mendelian forms of SLE. METHODS Targeted new-generation sequencing was used to identify TLR7 coding var...
Y. Renaudineau, J. Hawkes, Katarzyna Mizgalska et al.
· Annals of the Rheumatic Dise... · 0 citations