In mature B cells, TACI controls class-switch recombination and differentiation into plasma cells during T cell-independent antibody responses. TACI binds the ligands BAFF and APRIL. Approximately 10% of patients with common variable immunodeficiency (CVID) carry TACI mutations, of which A181E and C172Y are in the transmembrane domain. Residues A181 and C172 are located on distinct sides of the transmembrane helix, which is predicted by molecular modeling to spontaneously assemble into trimers and dimers. In human B cells, these mutations impair ligand-dependent (C172Y) and -independent (A181E) TACI multimerization and signaling, as well as TACI-enhanced proliferation and/or IgA production. Genetic inactivation of TACI in primary human B cells impaired survival of CpG-activated cells in the absence of ligand. These results identify the transmembrane region of TACI as an active interface for TACI multimerization in signal transduction, in particular for ligand-independent signals. These functions are perturbed by CVID-associated mutations.
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http://dx.doi.org/10.1016/j.celrep.2022.110583 | DOI Listing |
Intern Emerg Med
January 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 PDFJ Autoimmun
January 2025
Division of Haematology/Oncology, Department of Medicine, Case Western Reserve University, Cleveland, OH, USA; Department of Pathology, Case Western Reserve University, Cleveland, OH, USA; Pediatric Haematology and Oncology, The Angie Fowler Adolescent & Young Adult Cancer Institute, University Hospitals Rainbow Babies & Children's Hospital, Cleveland, OH, USA; The Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA. Electronic address:
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by dysregulated B cell activation, autoantibody production, and nephritis. B cell activating factor (BAFF) overexpression enhances autoreactive B-cell survival, driving autoimmunity. BAFF specific belimumab and CD20 specific rituximab antibodies are used for SLE therapy but are not curative, highlighting the need for alternative B cell depletion therapies.
View Article and Find Full Text PDFNarra J
December 2024
Eijkman Research Center for Molecular Biology, National Research and Innovation Agency (BRIN), Bogor, Indonesia.
Nephrotic syndrome, a multifaceted medical condition characterized by significant proteinuria, has recently prompted a reorientation of research efforts toward B-cell-mediated mechanisms. This shift underscores the pivotal role played by B-cells in its pathogenesis. The aim of this study was to explore potential therapeutic pathways, with specific attention given to compounds found in , including withanolides, such as physalins, which constitute one of the five distinct withanolide subgroups identified in .
View Article and Find Full Text PDFInt J Cardiol
January 2025
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905, United States of America. Electronic address:
Background: We hypothesized that patients with coarctation of aorta (COA) and obesity would have more advanced cardiovascular remodeling and impaired aerobic capacity compared to COA patients without obesity. The purpose of this study was to assess the relationship between obesity, cardiovascular remodeling, and aerobic capacity in adults with repaired COA.
Method: The study comprised of 3 groups: (1) Obese COA group (n=177) (COA patients with body mass index [BMI] >30 kg/m); (2) Non-obese COA group (n=572) (COA patients with BMI ≤30 kg/m); (3) Control group (n=59) (subjects without structural heart disease and BMI ≤30 kg/m).
Sci Rep
January 2025
Department of Cardiology and Internal Medicine, Military Institute of Medicine - National Research Institute, Warsaw, Poland.
The long-term hypercortisolemia of Cushing disease (CD) may lead to hemodynamic disorders by increasing subclinical cardiac and vascular dysfunction. The purpose of this observational cohort study was to assess the relationship between hemodynamic parameters evaluated via impedance cardiography (ICG) and echocardiographic parameters reflecting left ventricular function in 54 patients newly diagnosed with CD. The parameters assessed via ICG included stroke volume index (SI), cardiac index (CI), acceleration index (ACI), velocity index (VI), systemic vascular resistance index (SVRI), total artery compliance index (TACI).
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