Associated Papers
Novel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation.
Tian C et al.
Mucosal Immunology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
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
40800195 (PubMed )
Supplement: tp-14-07-1675-supplementary.pdf
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.
Sun L et al.
Journal of Clinical Immunology, 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
An ELF4 hypomorphic variant results in NK cell deficiency.
Salinas SA et al.
Jci Insight, 2022
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