Associated Papers
Novel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation.
Tian C et al.
Mucosal Immunology, 2025
Novel pathogenic variant in the deficiency in ELF4, X-linked (DEX): case report and literature review.
Zhuo L et al.
Orphanet Journal of Rare Diseases, 2025
Two novel frameshift variations in the ELF4 gene expand the mutational spectrum of DEX: case report and literature review.
Sun M et al.
Translational Pediatrics, 2025
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
40347836 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_6
[Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4].
Wang N et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2024
Current understanding of ELF4 deficiency: a novel inborn error of immunity.
Du HQ et al.
World Journal of Pediatrics : Wjp, 2024
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Olyha SJ et al.
Journal of Clinical Immunology, 2024
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.
Sun G et al.
Journal of Clinical Immunology, 2023
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