Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

doi:10.1084/jem.20232005

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Article

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

The Journal of experimental medicine - 5 Aug 2024

Rael Victoria E, Yano Julian A, Huizar John P, Slayden Leianna C, Weiss Madeleine A, Turcotte Elizabeth A, Terry Jacob M, Zuo Wenqi, Thiffault Isabelle, Pastinen Tomi, Farrow Emily G, Jenkins Janda L, Becker Mara L, Wong Stephen C, Stevens Anne M, Otten Catherine, Allenspach Eric J, Bonner Devon E, Bernstein Jonathan A, Wheeler Matthew T, Saxton Robert A, Liu Bo, Majer Olivia, Barton Gregory M

Abstract excerpt

Nucleic acid-sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease or virus-associated immunopathology. Here, we report a systematic scanning-alanine mutagenesis screen of all cytosolic and luminal residues of the TLR chaperone protein UNC93B1, which identified both negative and positive...

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Source

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Identifiers

PMID: 38780621
DOI: 10.1084/jem.20232005
PMCID: PMC11116816

Genes

UNC93B1
TLR7
TLR3
TLR9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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