Article

Truncating <i>RELA</i> variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-kB

2025-11-10

Abstract excerpt

The NF-κB signaling pathway coordinates inflammation, cell survival, and proliferation, while restraining excessive cell death to maintain immune homeostasis. Truncating mutations in RELA , encoding the NF-κB subunit p65, have been linked to autoinflammation and autoimmunity, but the underlying mechanisms remain incompletely defined. We investigated six patients from five unrelated families carrying novel heteroz...

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Identifiers and source

Literature Corpus work: 4c1794b9-0d09-511d-8bbe-9d99bfe1ca83
DOI: 10.1101/2025.11.09.687461

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