ArticleJCI insight2022
An ELF4 hypomorphic variant results in NK cell deficiency.
Article in JCI insight, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 10 citations in OpenAlex.
- Homozygous initiation codon-altering complex variant causes rapid-onset chorioretinopathy phenotype in ABCA4 disease.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- A novel ELF4 gene variant disrupts T and NK cell function in a patient with immune thrombocytopenia (ITP).Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- A truncatingFrontiers in immunology · 2026Article
- Two novel frameshift variations in theTranslational pediatrics · 2025Article
- Transcription factor ELF4 in physiology and diseases: Molecular roles and clinical implications.Genes & diseases · 2025Review
- Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency.The Journal of allergy and clinical immunology · 2025Article
- X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.Journal of clinical immunology · 2025Article
- The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.Cell reports · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- [Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency inSichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Article
- Current understanding of ELF4 deficiency: a novel inborn error of immunity.World journal of pediatrics : WJP · 2024Review
- "Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.Journal of clinical immunology · 2024Article
- A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.Journal of clinical immunology · 2023Article
- The transcription factor ELF4 alleviates inflammatory bowel disease by activating IL1RN transcription, suppressing inflammatory TH17 cell activity, and inducing macrophage M2 polarization.Frontiers in immunology · 2023Article
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Authors and funding
22 authors at 4 institutions in 1 country.
Funding
Abstract
NK cell deficiencies (NKD) are a type of primary immune deficiency in which the major immunologic abnormality affects NK cell number, maturity, or function. Since NK cells contribute to immune defense against virally infected cells, patients with NKD experience higher susceptibility to chronic, recurrent, and fatal viral infections. An individual with recurrent viral infections and mild hypogammaglobulinemia was identified to have an X-linked damaging variant in the transcription factor gene ELF4. The variant does not decrease expression but disrupts ELF4 protein interactions and DNA binding, reducing transcriptional activation of target genes and selectively impairing ELF4 function. Corroborating previous murine models of ELF4 deficiency (Elf4-/-) and using a knockdown human NK cell line, we determined that ELF4 is necessary for normal NK cell development, terminal maturation, and function. Through characterization of the NK cells of the proband, expression of the proband's variant in Elf4-/- mouse hematopoietic precursor cells, and a human in vitro NK cell maturation model, we established this ELF4 variant as a potentially novel cause of NKD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.