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Article

Case Report: Diverse pediatric phenotypes of RELA frameshift variants: comparison of two cases.

Frontiers in immunology - 1 Jan 2026

Hou Ling, Yin Lu, Zhao Chengguang, Du Yue

Abstract excerpt

Background: Variants in RELA (which encodes the p65 subunit of NF-κB) can cause a monogenic autoinflammatory disease with clinical manifestations that range from mucocutaneous lesions (Behçet's disease-like) to systemic inflammation. However, the diversity of the phenotype and its penetrance are uncertain. Case presentation: Patient 1 (p.Asp465Thrfs14) presented with classic Behçet's disease-like symptoms of oral...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41789064
DOI: 10.3389/fimmu.2026.1756745
PMCID: PMC12957222

Genes

RELA
BCL2A1
TNF
TRAF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.Semantic proximity Read ↗

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