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Browsing by Author "Cucer, Nurhan"

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    Article
    Characterization of Peripheral Blood T Follicular Helper (Tfh) Cells in Patients With Type 1 Gaucher Disease and Carriers
    (Academic Press inc Elsevier Science, 2023) Uzen, Ramazan; Bayram, Fahri; Dursun, Huseyin; Kardas, Fatih; Cakir, Mustafa; Cucer, Nurhan; Donmez-Altuntas, Hamiyet
    Background: Gaucher disease (GD) is the most common autosomal recessive lipid storage disease. In this study, the changes in TFH cells and IL-4 and IL-21 cytokines in blood samples of GD patients, carriers and healthy volunteers were investigated.Methods: Two pretreatment type 1 GD patients, 20 currently treated type 1 GD patients, 6 carriers, and 27 healthy volunteers were enrolled in the study. TFH cell (CD45RA- CD4+CXCR5+) number, phenotype (PD1, ICOS expression), and cytokine production (IL-21, IL-4) were assessed via flow cytometric assays.Results: No significant differences were found between the groups with respect to the number, frequency and PD1 or ICOS expression of TFH cells between healthy controls, patients and carriers. However, IL-4+ TFH cells were significantly reduced both in percent and number in the treated GD patients compared with healthy controls (p < 0.05). Interestingly, the IL-21+ TFH cell number was increased in treated GD patients. When TFH cells were examined based on CXCR3 expression, the frequency of the PD1+Th17-Th2-like fraction (CXCR3-) was found to be significantly increased in treated GD patients. Conclusion: To our knowledge, this is the first study to assess TFH cells in GD patients, and to show that the production of IL-4 and IL-21 by TFH cells and their subsets may be altered in type 1 GD patients.
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    The Number and Frequency of Mucosal-Associated Invariant T (Mait), Γδ T, and Innate Lymphoid Cells (Ilcs) Altered in Patients With Type I Gaucher Disease
    (Elsevier Science inc, 2025) Uzen, Ramazan; Bayram, Fahri; Dursun, Huseyin; Kardas, Fatih; Cakir, Mustafa; Cucer, Nurhan; Donmez-Altuntas, Hamiyet
    Introduction: Gaucher disease (GD) is a rare lysosomal storage disease caused by mutations in the Glucocerebrosidase (GBA) gene. The innate immunopathology of GD beyond macrophage involvement is not well characterized. In the current study, the changes in ILC subsets, gamma delta T and MAIT cells, TNF-alpha and IFN-gamma cytokine levels in the peripheral blood of patients with Type 1 GD and GD carriers were evaluated. Methods: Peripheral blood mononuclear cells obtained from patients and controls were isolated using the Ficoll-Paque gradient method; after surface and intracellular staining, the cells were analyzed on FACSARIA III. Results: Our analyses revealed that CD8+ MAIT cells and CD8+ gamma delta T cells are reduced in the treated patients compared with the carriers. MAIT cell-specific IFN-gamma production and absolute counts of IFN-gamma+ MAIT cells significantly decreased in Type 1 GD patients who received ERT compared with healthy controls, which could be important indicators for the pathogenesis and severity of the disease. Additionally, total ILCs, particularly the ILC1 subset, were reduced in the Type I GD patients receiving ERT compared with healthy controls and the carriers. Conclusion: The changes observed in ILCs, gamma delta T cells, MAIT cells, TNF-alpha and IFN-gamma cytokine levels in both pre-and post-treatment Type 1 GD patients may play a vital role in the pathogenesis of GD.