Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB.

doi:10.1172/jci.insight.200002

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Article

Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB.

JCI insight - 22 Sept 2026

Lucas Nadja, Weidler Sophia, Eicher Antonia A, Keller Baerbel, Satirer Özlem, Desrochers Adam, Ramnarine Timothy Js, Mokhtari Mohammad, Elstner Sophie, Strauss Timmy, Mages Simon W, Kendirli Arek, Buzoianu Oana Cristina, Haack Tobias B, Igel Lina, Niehues Tim, von Hardenberg Sandra, Fasshauer Maria, Abou Jamra Rami, Ott Hagen, Hüffmeier Ulrike, Schuetz Catharina, Bijwaard Marisa, Wagner Susan, Switala Paulina, Koss Sarah, Schultz Jurek, Kretschmer Stefanie, Kümmerle-Deschner Jasmin, Wolf Christine, Klughammer Johanna, Lee-Kirsch Min Ae

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 6 patients from 5 unrelated families carrying heterozygous...

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Topics

Humans
Transcription Factor RelA
Autoimmunity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Inflammation

Signal Transduction

Male

Feedback, Physiological

NF-kappa B

Mutation

Haploinsufficiency

Child

Adult

Cytokines

Source

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Identifiers

PMID: 42579371
DOI: 10.1172/jci.insight.200002
PMCID: PMC13596719

Genes

RELA
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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