ReviewOrphanet journal of rare diseases2025
Novel pathogenic variant in the deficiency in ELF4, X-linked (DEX): case report and literature review.
Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDeficiency in ELF4, X-linked (DEX) is a recently recognized monogenic autoinflammatory disorder and a novel type of congenital immunodeficiency. Due to the limited number of reported cases, understanding of DEX remains incomplete. In clinical settings, children with this condition are often misdiagnosed as having diseases such as Behçet's disease or inflammatory bowel disease, due to overlapping clinical features.
methodsGenomic DNA was isolated from peripheral blood samples for genetic analysis, and genomic DNA was extracted from the peripheral blood samples of the proband's mother for x chromosome inactivation (XCI) analysis.
resultsA retrospective analysis was conducted on the clinical and genetic characteristics of a 3-year-old male patient with DEX in China. This study offers a detailed exploration of the child's specific clinical symptoms and treatment approach, in addition to a comprehensive review of the primary clinical manifestations and genotypic traits of individuals with DEX.
conclusionThis study aims to increase clinicians' understanding of DEX. In cases where young male patients present with recurrent fever, oral or mucosal ulcers, or repeated infections, DEX should be strongly considered. Early implementation of gastrointestinal endoscopy and genetic testing is recommended to enable a more precise and timely diagnosis, laying a solid foundation for informed treatment decisions.
Indexed as
Identifiers
What OpenQuestion holds
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.