ArticleJournal of clinical immunology2024
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Article in Journal of clinical immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Red flags to suspect inborn errors of immunity in patients with autoimmune diseasesBiomedica : revista del Instituto Nacional de Salud · 2024Pooled it
- Behçet's spectrum disorders: genetic and immunological insights into an emerging disease concept.World journal of pediatrics : WJP · 2026Review
- A truncatingFrontiers in immunology · 2026Article
- Gastroenterological disorders in inborn errors of immunity. Part 2 A. Overview of selected diseases.Przeglad gastroenterologiczny · 2026Review
- Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.Immunologic research · 2025Article
- Roles of endothelial cells during infection.Current opinion in immunology · 2025Review
- Novel pathogenic variant in the deficiency in ELF4, X-linked (DEX): case report and literature review.Orphanet journal of rare diseases · 2025Review
- Two novel frameshift variations in theTranslational pediatrics · 2025Article
- X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.Journal of clinical immunology · 2025Article
- How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.ACR open rheumatology · 2025Review
- A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.Journal of clinical immunology · 2024Article
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Authors and funding
30 authors at 12 institutions in 5 countries.
Funding
Abstract
Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet's- and inflammatory bowel disease (IBD)-like disorder termed "deficiency in ELF4, X-linked" (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses. DEX patients exhibit a heterogeneous clinical phenotype including weight loss, oral and gastrointestinal aphthous ulcers, fevers, skin inflammation, gastrointestinal symptoms, arthritis, arthralgia, and myalgia, with findings of increased inflammatory markers, anemia, neutrophilic leukocytosis, thrombocytosis, intermittently low natural killer and class-switched memory B cells, and increased inflammatory cytokines in the serum. Patients have been predominantly treated with anti-inflammatory agents, with the majority of DEX patients treated with biologics targeting TNFα.
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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.