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Article

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.

Journal of clinical immunology - 20 Feb 2025

Zhao Rongtao, Zhang Zhuo, Mei Shiyue, Sun Li, Zhang Qianlu, Lv Qianying, Zhou Fang, Sun Gan, Zhou Lina, Tang Xuemei, An Yunfei, Liu Zhifeng, Zhao Xiaodong, Du Hongqiang

Abstract excerpt

Deficiency in ELF4, X-linked (DEX) is a newly identified monogenic autoinflammatory disease. Most reported cases are male, leading to the recognition of DEX being primarily limited to male patients. Here we described 3 pediatric female patients with DEX from 3 unrelated families, who are all heterozygous for ELF4 mutations (c.320_c.321insA, c.329delA and c.685 A > G). Similar to reported male DEX patients, the...

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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: 39976696
DOI: 10.1007/s10875-025-01866-2
PMCID: PMC11842529

Genes

ELF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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