TLR7 GOF mutations in patients with SLE. (A) Family pedigree. Circles and squares indicate female and male family members, respectively. Filled symbols indicate patients with SLE. TLR7 genotypes are provided under each symbol, when available. The line across II:1 indicates deceased status. (B) Alignment of TLR7 primary sequences of indicated species; bold letter indicates conservation of residue. (C) Representation of the structure of TLR7; numbers indicate endosomal LRR regions; TM indicates the transmembrane domain, while the toll/interleukin-1 receptor (TIR) signaling domain is cytoplasmic. Previously reported TLR7 GOF mutations are indicated in blue on the top, while the novel mutation reported in this study is in red.