Molecular investigations on T cell subsets in patients affected by hypomorphic DCLRE1C mutation
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Tarih
2025
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Taylor & Francis Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Leaky SCID, DCLRE1C, Th cell, Treg, CD4
Kaynak
Expert Review of Clinical Immunology
WoS Q Değeri
Q2
Scopus Q Değeri
Q2
Cilt
21
Sayı
3
