Associated Papers
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
X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.
Zhao R et al.
Journal of Clinical Immunology, 2025
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
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
Sun G et al.
Journal of Clinical Immunology, 2022
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