Fig. 4: Immunophenotyping by CyTOF.

A Dimensional reduction by t-SNE of 33 surface markers. Each color identifies a distinct cell population. B Density t-SNE plots of healthy controls (HC) and the patient (P1). C Box plot representing maximum and minimum values, interquartile range, and the median of the frequencies of immune cell populations as a percentage of total leukocytes for healthy controls, a heterozygous carrier, and the patient. D Gating of the CD4+ and CD8+ T cell populations in a healthy control (HC) and the patient (P1). Parental gating: CD45+ CD66b- CD19- CD20- CD14- CD56- CD3+.