Fig. 3: Single cell RNA-seq analysis of effector/memory CD4+ T cell reveal different subsets enrichment in ACM patients vs. HC.

at-SNE and UMAP projections of single-cell transcriptomes of cell-sorted CD45RO+ CD25+ CCR4+ CD4+ mTreg from PBMC of ACM patients with PKP2* mutation and controls (n = 5 per group) show the presence of 6 clusters bt-SNE projections of HC or ACM cells (separately) and c their respective contribution (frequency and cell numbers) to the 6 clusters. d Pseudotemporal gene-expression profiles of DICE selected mTreg defined three trajectories on a UMAP plot with cells colored according to its pseudotime. e Clustering of significant genes based on their expression pattern over pseudotime trajectories (|area between the curves|>0.5 with p-value < 0.01 in at least a pairwise comparison), defined 18 groups of genes. f Profiles of marker genes differentially expressed across the trajectories and pathway analysis related to groups of genes with similar expression patterns.