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. 2020 Nov 10;218(2):e20192191. doi: 10.1084/jem.20192191

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© 2020 Maccari et al.

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Figure S1. — ALPS DNTs show a unique transcriptional profile. (A) Principal component (PC) analysis of RNA sequencing data on DNTs, CD8⁺ N+EDs, and CD8⁺ LDs of three ALPS-FAS patients (P1–P3) and CD8⁺ LDs of three adult HDs (HD1–HD3). (B) Heatmap depicting up-regulated transcription factors among DNT private DEGs (all significantly up-regulated in both comparisons of DNTs versus CD8⁺ N+EDs and DNTs versus CD8⁺ LDs). Log₂ fold changes (log₂ FCs) are shown for the comparisons of DNTs versus CD8⁺ N+EDs and DNTs versus CD8⁺ LDs to compare the degree of dysregulation. (C) Heatmap of down-regulated transcription factors among DNT private DEGs (all significantly down-regulated in both comparisons of DNTs versus CD8⁺ N+EDs and DNTs versus CD8⁺ LDs). Relative expression (Z-score) of genes is shown and is color coded according to the legend. Rows are scaled to have a mean value of 0 and an SD of 1. (D) Heatmaps showing expression levels (color code = log₂ FC) of the top 30 up- or down-regulated genes identified in ALPS DNTs versus CD8⁺ N+EDs and CD8⁺ LDs by RNA sequencing analysis (RNAseq) or selected up- or down-regulated molecules on ALPS DNTs by CyTOF/FACS in human naive T reg cells (T reg_naive = CD3⁺CD4⁺CD25^hiCD127^lowCD45RA⁺) and memory T reg cells (T reg_mem = CD3⁺CD4⁺CD25^hiCD127^lowCD45RA⁻) compared with naive CD4⁺ T cells (T_n = CD3⁺CD4⁺CD45RA⁺CCR7⁺). T_n, T naive.