Molecular investigations on T cell subsets in patients affected by hypomorphic DCLRE1C mutation

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dc.authorid0000-0001-8445-666X
dc.authorid0000-0001-5821-3963
dc.authorid0000-0003-3201-8945
dc.contributor.authorKaraselek, Mehmet Ali
dc.contributor.authorDuran, Tugce
dc.contributor.authorKuccukturk, Serkan
dc.contributor.authorHazar, Esra
dc.contributor.authorDogar, Oznur
dc.contributor.authorKiykim, Ayca
dc.contributor.authorGuner, Sukru
dc.date.accessioned2026-01-24T12:31:29Z
dc.date.available2026-01-24T12:31:29Z
dc.date.issued2025
dc.departmentAlanya Alaaddin Keykubat Üniversitesi
dc.description.abstractObjectiveIn 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.
dc.description.sponsorshipecmettin Erbakan University Scientific Research Projects [192018006]; Scientific Research Committee
dc.description.sponsorshipWe thank our patients who participated in the study and we thank to Necmettin Erbakan University the Scientific Research Committee for financial support (project number: 192018006).
dc.identifier.doi10.1080/1744666X.2024.2352479
dc.identifier.endpage399
dc.identifier.issn1744-666X
dc.identifier.issn1744-8409
dc.identifier.issue3
dc.identifier.pmid38706114
dc.identifier.scopus2-s2.0-85192510322
dc.identifier.scopusqualityQ2
dc.identifier.startpage393
dc.identifier.urihttps://doi.org/10.1080/1744666X.2024.2352479
dc.identifier.urihttps://hdl.handle.net/20.500.12868/5918
dc.identifier.volume21
dc.identifier.wosWOS:001216958500001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTaylor & Francis Ltd
dc.relation.ispartofExpert Review of Clinical Immunology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20260121
dc.subjectLeaky SCID
dc.subjectDCLRE1C
dc.subjectTh cell
dc.subjectTreg
dc.subjectCD4
dc.titleMolecular investigations on T cell subsets in patients affected by hypomorphic DCLRE1C mutation
dc.typeArticle

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