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Article

A truncating ELF4 variant in a pediatric patient with autoinflammatory disease and cell type-specific immune alterations.

Frontiers in immunology - 1 Jan 2026

Zhang Qianlu, Lei Yatang, Zhou Lina, Zhang Zhiyong, Tang Xuemei, An Yunfei, Zhao Xiaodong, Du Hongqiang

Abstract excerpt

Introduction: ELF4 is an ETS family transcription factor involved in immune regulation, including antiviral responses and inflammatory signaling. Germline loss-of-function variants in ELF4 cause deficiency in ELF4, X-linked (DEX), a disorder characterized by recurrent mucocutaneous inflammation and variable immune abnormalities. To date, ELF4-related disease has been reported only in association with germline...

Read the complete abstract on PubMed

Topics

Humans
Male
Transcription Factors
DNA-Binding Proteins
HEK293 Cells
Child

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

Hereditary Autoinflammatory Diseases

Mutation

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 42769205
DOI: 10.3389/fimmu.2026.1859084
PMCID: PMC13590361

Genes

ELF4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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