Article
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
Journal of clinical immunology - 7 Feb 2024
David Clémence, Badonyi Mihaly, Kechiche Robin, Insalaco Antonella, Zecca Marco, De Benedetti Fabrizio, Orcesi Simona, Chiapparini Luisa, Comoli Patrizia, Federici Silvia, Gattorno Marco, Ginevrino Monia, Giorgio Elisa, Matteo Valentina, Moran-Alvarez Patricia, Politano Davide, Prencipe Giusi, Sirchia Fabio, Volpi Stefano, Masson Cécile, Rice Gillian I, Frémond Marie-Louise, Lepelley Alice, Marsh Joseph A, Crow Yanick J
Abstract excerpt
TLR7 recognizes pathogen-derived single-stranded RNA (ssRNA), a function integral to the innate immune response to viral infection. Notably, TLR7 can also recognize self-derived ssRNA, with gain-of-function mutations in human TLR7 recently identified to cause both early-onset systemic lupus erythematosus (SLE) and neuromyelitis optica. Here, we describe two novel mutations in TLR7, F507S and L528I. While the...
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