Article

A novel <i>UNC93B1</i> gain-of-function mutation leads to TLR7 and TLR8 hyperactivation and systemic lupus erythematosus

2024-09-13

Abstract excerpt

Dysfunctions in nucleic acid-sensing Toll-like receptors (TLRs) disrupt nucleic acid tolerance, leading to systemic lupus erythematosus (SLE). Here, we report a novel homozygous gain-of-function p.R95L mutation in the TLR chaperone protein UNC93B1 in an SLE patient. Bulk and single-cell transcriptional analysis of the patient’s peripheral blood mononuclear cells (PBMCs) revealed significantly elevated inflammation...

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Literature Corpus work: 5df1b76a-71f8-5272-abf1-852253f8855f
DOI: 10.1101/2024.09.11.24313360

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