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Article

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.

Inflammatory bowel diseases - 1 Oct 2025

Tal Noa, Baram Liran, Gehlhaar Arne, Gu Weihong, Guo Siqi, Santiago Eduardo Gonzalez, Lev Atar, Barel Ortal, Shamir Raanan, Somech Raz, Konnikova Liza, Shouval Dror S

Abstract excerpt

BACKGROUND: Mutations in RELA, a key component of NF-κB signaling, are associated with dysregulated immune responses and inflammatory disorders. While immunodeficiency phenotypes associated with RELA haploinsufficiency have been reported, gastrointestinal manifestations remain poorly described. This study aimed to characterize the clinical, genomic, and immunological features of a patient presenting with an...

Topics

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Adolescent
Crohn Disease
Exome Sequencing
CD4 gene
Haploinsufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Transcription Factor RelA

Source

Open in PubMed Open full text

Identifiers

PMID: 40876844
DOI: 10.1093/ibd/izaf159
PMCID: PMC12558583

Genes

RELA
ADAM12
CD4
IL23R

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Related research

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Click a neighbor to travelStep 1 · 12 closest

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.PMID 40876844Read ↗

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Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenicRELAvariantSemantic proximity Read ↗

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

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.Semantic proximity Read ↗

Single-Cell RNA Sequencing of Terminal Ileal Biopsies Identifies Signatures of Crohn’s Disease PathogenesisSemantic proximity Read ↗

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Nuclear Factor Kappa B (NF-κB)1 and NF-κB2 Deficiency: An Unpredictable Defect With Wide Clinical and Immunologic Phenotype.Semantic proximity Read ↗

Heterozygous RELA mutations cause early-onset systemic lupus erythematosus by hijacking the NF-κB pathway towards transcriptional activation of type-I Interferon genesSemantic proximity Read ↗

Integration of single-cell transcriptome and genetic profiles reveals critical cell types and genes in inflammatory bowel diseaseSemantic proximity Read ↗

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