Molecular investigations on T cell subsets in patients affected by Hypomorphic DCLRE1C Mutation.

IF 3.9 3区医学 Q2 IMMUNOLOGY

Expert Review of Clinical Immunology Pub Date : 2024-05-05 DOI:10.1080/1744666X.2024.2352479

Mehmet Ali Karaselek, Tugce Duran, Serkan Kuccukturk, Esra Hazar, Oznur Dogar, Ayca Kıykım, Sukru Guner, Ismail Reisli, Sevgi Keles

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Abstract

Objective: In 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.

Methods: The 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).

Results: Flow cytometric analyses; while the Treg rate was significantly lower in non-HSCT than in controls (p = 0.010), the IFN-γ 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.

Conclusions: Our 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.

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受低形 DCLRE1C 基因突变影响的患者体内 T 细胞亚群的分子研究。

研究目的在这项研究中，我们探讨了辅助性 T（Th）细胞亚群（Th1、Th2、Th17 和 Treg）中转录因子、细胞因子和共刺激分子在低表型 DCLRE1C 基因突变患者体内的表达情况：研究对象包括八名患者和五名对照组。T细胞刺激后，通过 qPCR 和流式细胞仪检测 Th 亚群和共刺激分子的转录因子和细胞因子表达。研究结果在患者（非造血干细胞移植）和造血干细胞移植（HSCT）之间进行了比较：流式细胞分析显示，非造血干细胞移植患者的Treg率明显低于对照组（p = 0.010），而患者的IFN-γ率明显高于对照组和造血干细胞移植组（分别为p = 0.016和p = 0.022）。非造血干细胞移植组的共刺激分子表达量明显低于对照组（p 结论：非造血干细胞移植组的共刺激分子表达量明显低于对照组：我们的研究是第一项从分子角度研究低常DCLRE1C患者Th细胞亚群的研究。研究发现，尽管进行了造血干细胞移植，Th 细胞亚群的异常仍然存在。这些患者仍有许多情况有待解释，我们相信我们的研究可能会对未来的研究有所启示。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Expert Review of Clinical Immunology IMMUNOLOGY-

CiteScore

7.60

自引率

2.30%

发文量

221

审稿时长

6-12 weeks

期刊介绍： Expert Review of Clinical Immunology (ISSN 1744-666X) provides expert analysis and commentary regarding the performance of new therapeutic and diagnostic modalities in clinical immunology. Members of the International Editorial Advisory Panel of Expert Review of Clinical Immunology are the forefront of their area of expertise. This panel works with our dedicated editorial team to identify the most important and topical review themes and the corresponding expert(s) most appropriate to provide commentary and analysis. All articles are subject to rigorous peer-review, and the finished reviews provide an essential contribution to decision-making in clinical immunology. Articles focus on the following key areas: • Therapeutic overviews of specific immunologic disorders highlighting optimal therapy and prospects for new medicines • Performance and benefits of newly approved therapeutic agents • New diagnostic approaches • Screening and patient stratification • Pharmacoeconomic studies • New therapeutic indications for existing therapies • Adverse effects, occurrence and reduction • Prospects for medicines in late-stage trials approaching regulatory approval • Novel treatment strategies • Epidemiological studies • Commentary and comparison of treatment guidelines Topics include infection and immunity, inflammation, host defense mechanisms, congenital and acquired immunodeficiencies, anaphylaxis and allergy, systemic immune diseases, organ-specific inflammatory diseases, transplantation immunology, endocrinology and diabetes, cancer immunology, neuroimmunology and hematological diseases.