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A 2 yr. old female pt reported w/ a a novel P435S gain-of-function variant in TLR7 (thought pathogenic in SLE) - pt dx w/ juvenile SLE, recurrent infection, and neuroinflammatory features. A review of 12 other TLR7 GOF variants revealed similar SLE associations. https://t.co/NU553QwCtj
Dr. John Cush
Jan-18-2026
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