Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Despite advances in genetic testing, Inborn Errors of Immunity (IEI) continue to present a diagnostic challenge, further complicated by genetic variants of uncertain significance (VUS). Therefore, this study evaluated associations of VUS with clinical and immunological characteristics in subjects with potential IEIs. Genes for which VUS were identified were clustered by distinct immune functions. Relationships between gene clusters and clinical and laboratory data were evaluated via SPSS and Python. Both unbiased clustering and manual method classified VUS into six distinct groups based on gene function. Clusters showed association with unique clinical and/or immunological profiles.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.clim.2025.110513 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
A Novel Mutation of the NOTCH3 Gene in A Young Patient Presenting with an Acute Stroke: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
Eur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
View Article and Find Full Text PDFBackground: Addictive disorders remain a global problem, affecting health, society and the economy. The etiopathogenesis of addictions, which have a multifactorial nature, is poorly understood, making it difficult to develop personalized treatment approaches. Of particular interest is the gene, which regulates serotonergic transmission.
View Article and Find Full Text PDFReciprocated tachycardias in cardiac laminopathy: a clinical case report.
Eur Heart J Case Rep
September 2025
Feinberg School of Medicine, Northwestern University, 303E Chicago Ave, Ward 1-003, Chicago, IL 60611, USA.
Background: Cardiac laminopathies, associated with mutations in the LMNA gene, are a rare inherited disorder characterized by a broad range of clinical manifestations. There are currently no data on the association between supraventricular re-entrant tachycardias and LMNA-related cardiomyopathy.
Case Summary: A 26-year-old male presented with either wide-QRS tachycardia with a left bundle branch block (LBBB) pattern or narrow QRS tachycardia, as well as a history of palpitations since age 15.
Association of cord blood vitamin D and genetic polymorphisms with childhood food allergy in Shanghai, China: a prospective cohort.
Front Nutr
August 2025
Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Pudong, Shanghai, China.
Background: Emerging evidence suggests vitamin D plays a dual role in immune regulation, yet its interplay with genetic susceptibility in early-life allergy development remains poorly understood. This prospective cohort study investigated whether cord blood 25-hydroxyvitamin D [25(OH)D] levels interact with immunoregulatory gene variants to influence childhood food allergy risk.
Methods: A total of 1,049 mother-infant pairs from the Shanghai Allergy Cohort were stratified by cord blood 25(OH)D concentrations (<15, 15-25, >25 ng/mL).