Article

Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus

2023-10-16

Abstract excerpt

Rare genetic variants in TLR7 are known to cause lupus in humans and mice. UNC93B1 is a transmembrane protein that regulates TLR7 localisation into endosomes, however it has only been genetically linked to lupus in mice and dogs. We now identify a novel variant in UNC93B1 (T314A) located proximally to the TLR7 transmembrane domain, in a patient with childhood-onset systemic lupus erythematosus (SLE). Further exami...

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Literature Corpus work: 50024e1c-2246-520b-8d47-0b7b3919b7e9
DOI: 10.1101/2023.10.15.23296507

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