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  • Küçük Resim
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    Molecular investigations on T cell subsets in patients affected by hypomorphic DCLRE1C mutation
    (Taylor & Francis Ltd, 2024) Karaselek, Mehmet Ali; Duran, Tugçe; Küçüktürk, Serkan; Hazar, Esra; Doğar, Öznur; Kiykim, Ayca; Güner, Şükrü
    ObjectiveIn this study, we explored the expression of transcription factors, cytokines, and co-stimulatory molecules within the helper T (Th) cell subsets (Th1, Th2, Th17, and Treg) of patients with hypomorphic DCLRE1C gene mutations. MethodsThe study comprised eight patients and five controls. Transcription factor and cytokine expressions of Th subsets and co-stimulatory molecules were investigated by qPCR and flow cytometric following T cell stimulation. The findings were compared between patients (non-HSCT) and with hematopoietic stem cell transplantation (HSCT). ResultsFlow cytometric analyses; while the Treg rate was significantly lower in non-HSCT than in controls (p = 0.010), the IFN-gamma rate was significantly higher in patients than in the control and HSCT groups (p = 0.016, p = 0.022, respectively). Co-stimulatory molecule expressions were significantly lower in non-HSCT than in control (p < 0.001), and there was a significant improvement after HSCT. Post-stimulation qPCR analysis, significant changes were detected in non-HSCT/control, non-HSCT/HSCT, and HSCT/control comparisons. ConclusionsOur study is the first study to molecularly investigate Th cell subsets in hypomorphic DCLRE1C patients. It was determined that abnormalities in Th cell subsets still persisted despite HSCT. There are still many conditions to be explained in these patients, and we believe that our study may shed light on future studies.
  • Küçük Resim
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    Variable clinical presentation of hypomorphic dclre1c deficiency from childhood to adulthood
    (Wiley, 2024) Hazar, Esra; Karaselek, Mehmet Ali; Kapakli, Hasan; Doğar, Öznur; Küççüktürk, Serkan; Uygun, Vedat; Artac, Hasibe
    Background In this study, we aimed to report long-term follow-up of our pediatric and adult patients with DCLRE1C (DNA cross-link repair 1C) hypomorphic mutation who were diagnosed leaky severe combined immunodeficiency (SCID). Methods Eighteen patients (13 children and five adults), aged between 6 and 29 years were included. Clinical and immunological features, including immunoglobulin levels, T and B cells, natural killer cell subsets, regulator T (Treg) cell ratios/markers, and cytokines, were assessed before and after hematopoietic stem cell transplantation (HSCT) and compared with healthy controls. Results Recurrent infections (78%) and skin manifestations (61%) such as granulomatous skin lesions, warts, and vitiligo were the most common clinical findings. Autoimmune diseases were observed in 33% and malignancy in 17%. Most patients had low serum IgA and B- and T-cell lymphopenia at the first admission. Recent thymic emigrants (RTE), T-naive, B-naive, CD56(dim)CD16(+) cell ratios were significantly lower in the patients than in control; however, follicular helper T T-FH and Th1 [interferon gamma (IFN-gamma)] cell ratios were significantly higher than the control. Although, Treg ratio and its functional receptors tend to be high but not significant. Eleven patients (61.1%) were treated with HSCT. Median follow-up times of transplant patients was 56 (9-67) months. Conclusion Patients with hypomorphic DCLRE1C mutations may present with variable clinical and laboratory findings at different ages. Our study showed a helper T (Th)1-dominant immune response before and after HSCT. Increased IFN-gamma and T-FH cells ratio could be a reason of chronic inflammation and autoimmunity developing before and after HSCT. Long-term follow-up of these patients after HSCT will help to better understand the disease and its pathophysiology.