Mehmet Ali Karaselek, Tugce Duran, Serkan Kuccukturk, Esra Hazar, Oznur Dogar, Ayca Kıykım, Sukru Guner, Ismail Reisli, Sevgi Keles
{"title":"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。","authors":"Mehmet Ali Karaselek, Tugce Duran, Serkan Kuccukturk, Esra Hazar, Oznur Dogar, Ayca Kıykım, Sukru Guner, Ismail Reisli, Sevgi Keles","doi":"10.1080/1744666X.2024.2352479","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>Flow cytometric analyses; while the Treg rate was significantly lower in non-HSCT than in controls (<i>p</i> = 0.010), the IFN-γ rate was significantly higher in patients than in the control and HSCT groups (<i>p</i> = 0.016, <i>p</i> = 0.022 respectively). Co-stimulatory molecule expressions were significantly lower in non-HSCT than in control (<i>p</i> < 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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":12175,"journal":{"name":"Expert Review of Clinical Immunology","volume":" ","pages":""},"PeriodicalIF":3.9000,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Molecular investigations on T cell subsets in patients affected by Hypomorphic <i>DCLRE1C</i> Mutation.\",\"authors\":\"Mehmet Ali Karaselek, Tugce Duran, Serkan Kuccukturk, Esra Hazar, Oznur Dogar, Ayca Kıykım, Sukru Guner, Ismail Reisli, Sevgi Keles\",\"doi\":\"10.1080/1744666X.2024.2352479\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>Flow cytometric analyses; while the Treg rate was significantly lower in non-HSCT than in controls (<i>p</i> = 0.010), the IFN-γ rate was significantly higher in patients than in the control and HSCT groups (<i>p</i> = 0.016, <i>p</i> = 0.022 respectively). Co-stimulatory molecule expressions were significantly lower in non-HSCT than in control (<i>p</i> < 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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":12175,\"journal\":{\"name\":\"Expert Review of Clinical Immunology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.9000,\"publicationDate\":\"2024-05-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Expert Review of Clinical Immunology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/1744666X.2024.2352479\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"IMMUNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Expert Review of Clinical Immunology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/1744666X.2024.2352479","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
Molecular investigations on T cell subsets in patients affected by Hypomorphic DCLRE1C Mutation.
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.
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.