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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia

Fig. 4

Inference of cell type proportions from bulk RNAseq indicates loss of CD4+/CD8 + T-cell populations in A-T affected individuals. (A) Uniform Manifold Approximation and Projection (UMAP) plot of subset of data from (Hagemann-Jensen et al., 2022) Smart-seq3xpress atlas of human PBMCs, showing parent cell type labels mapped here for deconvolution. (B) Dotplot showing expression of a subset of identified marker genes across parent cell type groups. (C) Dotplot showing expression of A-T related genes of interest in this study across parent cell type groups. (D) Stacked barplot of CellAnneal-inferred cell type proportions in bulk RNAseq samples stratified by condition. Single asterisk indicates p < 0.05 between unaffected at classic A-T, double asterisk additionally indicates p < 0.05 between unaffected and mild A-T. (E) As in (D) but for classic A-T affected individuals only, stratified by inflammatory response level. Single asterisk indicates p < 0.05 between low and high inflammatory response levels, double asterisk additionally indicates p < 0.05 between low and moderate inflammatory response levels

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172