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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

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

Fig. 2

Bulk RNAseq of PBMCs in classic A-T suggests loss of T-cell V(D)J recombination activity and enrichment in monocyte-associated inflammatory pathways. A) Volcano plot showing differences in gene expression in PBMCs from classic A-T vs. unaffected control individuals. B,C) Over representation analysis (ORA) of GO Biological Processes (GO:BP) for genes increased (B) and decreased (C) in expression in classic A-T vs. unaffected control individuals. D) Matrixplot of selected MSigDB hallmark geneset scores. E,F,G) Matrix plots showing mean Z-scored expression of the differentially expressed genes involved in the GO:BPs DNA repair (E), neurogenesis (F), or vascular development (G) (FDR < 0.05)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172