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.