A5022349538- Immune Cell Function and Interaction
- Immunodeficiency and Autoimmune Disorders
- Cytomegalovirus and herpesvirus research
- Metabolism and Genetic Disorders
- Blood disorders and treatments
- Lymphoma Diagnosis and Treatment
- Mitochondrial Function and Pathology
- T-cell and B-cell Immunology
- Diabetes and associated disorders
Istanbul University-Cerrahpaşa
2021-2025
Istanbul University
2017
ABSTRACT Urea cycle disorders (UCDs) are a group of genetic metabolic conditions characterized by enzyme deficiencies responsible for detoxifying ammonia. Hyperammonemia, the accumulation intermediate metabolites, and deficiency essential amino acids—due to protein‐restrictive diet use ammonia scavengers—can increase risk infections, particularly during crises. While underlying mechanisms immune suppression still being fully elucidated, hyperammonemia may impair function cells, T cells...
Abstract The group of patients with DNA‐repair‐defects increases susceptibility to infections due impaired repertoire diversity. In this context, we aimed investigate the TCRvβ‐repertoire by flow cytometric analysis and its correlation clinical entities in a IEI DNA repair defects. Peripheral lymphocyte subset analyses were performed analysis. aim was explore changing TCR‐Vβ‐repertoire that can predict some investigating using flow‐cytometric‐analysis‐based TCR‐Vβ interaction TCR‐repertoire...
Most patients with organic acidemia suffer from recurrent infections. Although neutropenia has been reported in multiple studies, other components of the immune system have not evaluated thoroughly. This study was conducted to assess status (OA).Thirty-three OA followed up Istanbul University-Cerrahpasa, Cerrahpasa School Medicine, Nutrition and Metabolism Department a total 32 age sex matched healthy controls were enrolled study. The demographic clinical data recorded retrospectively...
Abstract Inborn errors of immunity include multiple genetic abnormalities affecting different components the innate and adaptive immune systems. More than 450 genes have been described so far including DNA repair defects which may result in predisposition to infections, but also malignancies, neurologic growth retardation. The group patients with methylation exhibit impaired immunity, increases susceptibility infections due repertoire diversity. In this context, we aimed investigate TCRvβ...
<h3></h3> ALPS is a rare disease characterized by chronic, non-malignant lymphoproliferation and autoimmunity. The axis of apoptosis impaired in immunoregulation mutation Fas Ligand Caspase 8 genes. Lymphadenopathy, hepatosplenomegaly, Direct Coomb's (+), autoimmune hemolytic anemia, ITP are the most common clinical presentations.Hypergammaglobulinemia diagnostic increased CD4-CD8-T cells peripheral blood. Often it susceptible to B Cell Lymphoma. In our presentation, we wanted draw attention...