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Discovery of core genes for systemic lupus erythematosus via genome-wide aggregated trans-effects analysis.
Genes Immun
September 2025
Usher Institute, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, Scotland, UK.
The "omnigenic" hypothesis postulates that the polygenic effects of common variants on a typical complex trait coalesce on relatively few core genes through trans-effects on their expression. Our aim was to identify core genes for systemic lupus erythematosus (SLE) by testing for association with genome-wide aggregated trans-effects (GATE) scores for gene expression in a large genetic dataset (5267/4909 SLE cases/controls). SLE was strongly associated with upregulation of expression of eight interferon-stimulated genes driven by shared trans-effects.
View Article and Find Full Text PDFDual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management.
Front Immunol
June 2025
Translational Medicine Department, Research Department, Sidra Medicine, Doha, Qatar.
Background: Hyper-IgM syndrome (HIGM) is a genetic immunodeficiency characterized by elevated to normal IgM levels and decreased IgG, IgA, and IgE. The overlapping clinical presentations of different gene mutations complicate diagnosis and management.
Objective: This study aims to elucidate the clinical implications of concurrent and homozygous variants in a pediatric patient diagnosed with hyper-IgM syndrome.
The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable Immunodeficiency.
Int J Mol Sci
March 2025
Student Scientific Society, Poznan University of Medical Sciences, 61-701 Poznań, Poland.
The pediatric common variable immunodeficiency (CVID) is the most frequent symptomatic antibody production defect characterized by infectious and non-infectious autoimmune, inflammatory, and lymphoproliferative complications. The background for CVID-related organ-specific immunopathology is associated with immune dysregulation and immunophenotypic biomarkers with expansion of CD21low B cells, and dysfunctional memory B cell, follicular T cell, and regulatory T cell compartments. The ever-increasing progress in immunogenetics shows the heterogeneity of genetic background for CVID related to the complexity of clinical phenotypes.
View Article and Find Full Text PDFGenomic profiling at a single center cracks the code in inborn errors of immunity.
Intern Emerg Med
April 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFExpanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
Orphanet J Rare Dis
December 2024
Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain.
Results: through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a truncated protein in Pt.