Figure 2.
Human T-cell differentiation in patients with late T-cell block or without defects and summary of all T-cell differentiation assays. (A-D) T-cell differentiation assay in patients with RAG mutations, giving rise to a SCID (analyzed at 8 weeks) (A) or CID-G and autoimmunity (CID-G/AI) phenotype (6 weeks) (B), with DGS (8 weeks) (C), and with ADA-SCID (6 weeks) (D). The FACS plots show expression of CD34, CD19, CD7, CD5, CD1a, CD4, CD8β, TCRαβ, and CD3 upon gating on LIVE/DEAD–CD45+CD14–CD56– cells. CD5, CD7, and CD1a plots are obtained upon gating on LIVE/DEAD–CD45+CD14–CD56–CD34– cells. The bar graphs show the absolute cell counts per ATO in the indicated gates in each patient’ sample and in the ND sample (red bars) analyzed in parallel in the T-cell differentiation assay. (E) Summary of the absolute cell counts in the different T-cell subsets analyzed in all the experiments performed. The horizontal bar inside the gray box indicates the median, and the whiskers indicate 5% to 95% confidence intervals for all ND samples analyzed (n = 9). Each symbol represents a patient’s sample.

Human T-cell differentiation in patients with late T-cell block or without defects and summary of all T-cell differentiation assays. (A-D) T-cell differentiation assay in patients with RAG mutations, giving rise to a SCID (analyzed at 8 weeks) (A) or CID-G and autoimmunity (CID-G/AI) phenotype (6 weeks) (B), with DGS (8 weeks) (C), and with ADA-SCID (6 weeks) (D). The FACS plots show expression of CD34, CD19, CD7, CD5, CD1a, CD4, CD8β, TCRαβ, and CD3 upon gating on LIVE/DEADCD45+CD14CD56 cells. CD5, CD7, and CD1a plots are obtained upon gating on LIVE/DEADCD45+CD14CD56CD34 cells. The bar graphs show the absolute cell counts per ATO in the indicated gates in each patient’ sample and in the ND sample (red bars) analyzed in parallel in the T-cell differentiation assay. (E) Summary of the absolute cell counts in the different T-cell subsets analyzed in all the experiments performed. The horizontal bar inside the gray box indicates the median, and the whiskers indicate 5% to 95% confidence intervals for all ND samples analyzed (n = 9). Each symbol represents a patient’s sample.

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