Article

Human RIG-I Antiviral Deficiency Caused by a Dominant-Negative Variant Trapped in a Signaling-Inactive State

2026-08-20

Abstract excerpt

<title>Abstract</title> <p>RIG-I is a cytosolic pattern-recognition receptor that detects viral RNA to initiate type I interferon responses. While gain-of-function helicase mutations cause human autoinflammatory disease, naturally occurring loss-of-function variants in conserved helicase motifs remain undescribed. Here, we identify a heterozygous G731R substitution in helicase motif VI in a patient with life-thre...

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Identifiers and source

Literature Corpus work: 1c876d30-ab14-59ea-8792-8b2a7e4e7b88
DOI: 10.21203/rs.3.rs-10667618/v1

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