PMC5937423_01
Clinical imaging findings of this GS patient. (a) An anterior mediastinal mass (2.8 cm) in chest X-ray (blue arrow). (b) Signs of pneumonia in chest X-ray (blue arrow) when first hospitalized. (c) Lesion showed via PET/CT (blue arrow).
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Chest X-rays showed a 2.8 cm anterior mediastinal mass and signs of pneumonia (Figures 1(a) and 1(b)). PET/CT scan was subsequently taken, and the SUV value of the lesion was as depicted by 2.4 (Figure 1(c)), which almost excluded the possibility of tumor.
Distribution of peripheral blood immune cells in this GS patient and HCs. Representative of dot pots of CD4+ T cell, CD8+ T cell, gammadeltaT cell, and its subgroups (Vdelta1, Vdelta2) in our GS patient (a) and HCs (b). Detailed statistical graphs of gammadeltaT cells and its subgroups in this GS patient and HCs (c; N = 20).  : HCs group.
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T cells in this patient was higher than that in the HCs (43.9% versus 19.12 +- 17.20%) (Figure 2(c)). This different distribution of gammadeltaT cell subsets may be related to the patient's recurrent respiratory infections.
Elevated levels of peripheral CD4+ Tregs in this GS patient and HCs. Representing plots of three main markers of CD4+ Treg cell subgroups in our GS patient (a) and HCs (b), respectively. The percentages of CD4+CD25+Foxp3+ Tregs (N = 20) and CD4+CD39+ Treg (N = 10) in this GS patient and HCs (c).  : HCs group.
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As shown in Figure 3, the percentages of CD4+CD25+Foxp3+ Treg cells (5.54% versus 1.46 +- 0.71%) and CD4+CD25+CTLA-4+ Treg cells (3.18% versus 0.66%) were higher in our GS patient compared with HCs.
Elevated CD8+ Treg infiltration in the peripheral blood of GS patient and HCs. Representative dot plots of peripheral CD8+ Treg cells in this GS patient (a) and HCs (b), respectively. Statistical graphs of GS patient and HCs with CD8+CD28- Tregs and CD8+Foxp3+ Tregs (c; N = 20, resp.).  : HCs group.
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As shown in Figure 3, the percentages of CD4+CD25+Foxp3+ Treg cells (5.54% versus 1.46 +- 0.71%) and CD4+CD25+CTLA-4+ Treg cells (3.18% versus 0.66%) were higher in our GS patient compared with HCs. As shown in Figure 4, the proportions of CD8+CD28- Treg cells and CD8+Foxp3+ Treg cells in our GS patient were 88.8% (HCs 38.66 +- 6.93%) and 2.3% (HCs 0.71 +- 0.29%), respectively.
Cell proliferation capacity of peripheral CD4+ T cells in this GS patient. Representative dot pots of proliferation assay in this GS patient and HCs.
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As shown in Figure 4, the proportions of CD8+CD28- Treg cells and CD8+Foxp3+ Treg cells in our GS patient were 88.8% (HCs 38.66 +- 6.93%) and 2.3% (HCs 0.71 +- 0.29%), respectively. T cells from our GS patient via flow cytometry. The result shows that CD4+ T cells from our GS patient underwent less proliferation than those from HCs (34.0% versus 80.8%) following stimulation by CD3/CD28; additionally, the cells from the GS patients had lower proliferation rates and fewer divisions (Figure 5).
Expression of PD-1 and PD-L1 in this GS patient. Representative dot pots of PD-1 and PD-L1 in this GS patient.
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As shown in Figure 4, the proportions of CD8+CD28- Treg cells and CD8+Foxp3+ Treg cells in our GS patient were 88.8% (HCs 38.66 +- 6.93%) and 2.3% (HCs 0.71 +- 0.29%), respectively. T cells expressed markedly higher levels of PD-1 (34.2% versus 4.2 +- 1.8%) but lower levels of PD-L1 (6.61% versus 10.1 +- 3.9%) than those reported for GS patients (Figure 6); this difference was similar to that reported by previous studies. These results suggest that both poor proliferation and increased PD-1 expression of circulating CD4+ T cells, along with a higher level of CTLA-4 expression, may be at least partly associated with the delayed immune reactions to infection in our GS patient.
Cellular IFN-gamma levels originated from the peripheral immune cells in this GS patient and HCs. Representative dot pots of IFN-gamma derived from CD4+ T cells, CD8+ T cells, and gammadeltaT cells in this GS patient (a) and 10 HCs (b). Detailed statistical graphs of GS patient and HCs with cellular IFN-gamma (c; N = 10, resp.).  : HCs group.
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As shown in Figure 4, the proportions of CD8+CD28- Treg cells and CD8+Foxp3+ Treg cells in our GS patient were 88.8% (HCs 38.66 +- 6.93%) and 2.3% (HCs 0.71 +- 0.29%), respectively. T cells, CD8+ T cells, and gammadeltaT cells from our GS patient, and cells from 10 healthy volunteers were included as controls (Figure 7). The amount of
Cellular IL-17A levels derived from circuiting immune cells in this GS patient and HCs. Representative dot pots of IL-17A derived from CD4+ T cell, CD8+ T cell, and gammadeltaT cell in this GS patient (a) and HCs (b). Statistical graphs of intracellular IL-17A in GS patient and HCs (c; N = 10, resp.).  : HCs group.
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As shown in Figure 4, the proportions of CD8+CD28- Treg cells and CD8+Foxp3+ Treg cells in our GS patient were 88.8% (HCs 38.66 +- 6.93%) and 2.3% (HCs 0.71 +- 0.29%), respectively. HCs (4.3% versus 2.62 +- 1.38%) (Figure 8). However, the levels of cellular IL-17A produced by CD8+