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Two rare UNC93B1 variants contribute to childhood-onset lupus

This work identifies two rare genetic variants of UNC93B1 that contribute to the development of childhood-onset lupus. Mice that expressed one of these variants developed a lupus-like disease. UNC93B1 is known to regulate the localization of Toll-like receptors (TLRs) to the endosome, and UNC93B1 variants resulted in enhanced responses to TLR7 and TLR8 agonists.

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Fig. 1: UNC93B1 variants lead to increased TLR7 responses in patient-derived peripheral blood mononuclear cells and lupus-like pathology in mice.


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This is a summary of: Al-Azab, M. et al. Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus. Nat. Immunol. (2024).

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Two rare UNC93B1 variants contribute to childhood-onset lupus. Nat Immunol 25, 951–952 (2024).

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