Article

Immune dysregulation caused by novel gain-of-function <i>UNC93B1</i> variant with enhanced antigen presentation

2026-03-10

Abstract excerpt

UNC93B1 is a crucial chaperone protein for the trafficking of TLRs and regulates antigen presentation in dendritic cells (DCs), which activates downstream immune responses. Here, we identified a novel homozygous gain-of-function (GOF) UNC93B1 variant in an early-onset lupus patient. The patient presented with elevated level of inflammation and auto-antibody, and organ damage. The Unc93b1 R95L/R95L transgenic mic...

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Literature Corpus work: bbdaaa9a-d72a-586a-8914-a6deca5f6d28
DOI: 10.64898/2026.03.03.26347379

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