Figure 4.
NFAT1-deficient patient has impaired memory CD8+T cell function. (A) Volcano plot showing DE in CD8+ memory T cells between patient and 5 healthy controls (3 heterozygous controls and 2 healthy controls). (B) Violin plots of significantly differentially expressed genes of interest in CD8+ memory T cells in patient and healthy controls. (C) Frequency of CD8+ T cell subsets in the patient and a representative control, including CD45RA+CD27− TEMRA, CD45RA+CD27+ naïve (marked as “N”), CD45RA−CD27− effector memory (EM), and CD45RA−CD27+ central memory (CM). Quadrants corresponding to each subset are shown at top right. (D) Quantification of C. (E) Expression of NFAT1 in patient and control naïve and memory CD8+ T cells. Mean fluorescence intensities are indicated. (F) TNF-α and IFN-γ expression in memory CD8+ T cells in the patient and a control. (G-H) Quantification of F. (I) CD69 and PD-1 expression in patient and control memory CD8+ T cells after 4 hours of P/I stimulation. Mean fluorescence intensities are indicated. ∗P < .05, ∗∗∗∗P < .0001, one-way analysis of variance and Tukey’s post-hoc test. Green circles, healthy control; blue circle, II-2; blue upright triangle, I-2; blue inverted triangle, I-1; blue square, II-3; red diamond, II-1.

NFAT1-deficient patient has impaired memory CD8+T cell function. (A) Volcano plot showing DE in CD8+ memory T cells between patient and 5 healthy controls (3 heterozygous controls and 2 healthy controls). (B) Violin plots of significantly differentially expressed genes of interest in CD8+ memory T cells in patient and healthy controls. (C) Frequency of CD8+ T cell subsets in the patient and a representative control, including CD45RA+CD27 TEMRA, CD45RA+CD27+ naïve (marked as “N”), CD45RACD27 effector memory (EM), and CD45RACD27+ central memory (CM). Quadrants corresponding to each subset are shown at top right. (D) Quantification of C. (E) Expression of NFAT1 in patient and control naïve and memory CD8+ T cells. Mean fluorescence intensities are indicated. (F) TNF-α and IFN-γ expression in memory CD8+ T cells in the patient and a control. (G-H) Quantification of F. (I) CD69 and PD-1 expression in patient and control memory CD8+ T cells after 4 hours of P/I stimulation. Mean fluorescence intensities are indicated. ∗P < .05, ∗∗∗∗P < .0001, one-way analysis of variance and Tukey’s post-hoc test. Green circles, healthy control; blue circle, II-2; blue upright triangle, I-2; blue inverted triangle, I-1; blue square, II-3; red diamond, II-1.

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