Fig. 6: Visual representation of single-cell transcriptomic data of monocytes in VEXAS syndrome.
From: VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation
A UMAP plots showing the projection of single myeloid cells from PBMCs from patients with VEXAS (n = 2), VEXAS-like (n = 2), MDS (n = 2) and healthy controls (n = 2). B Proportion (frequencies) of the myeloid cell subsets, i.e. CD14 + CCL2+ monocytes, CD14 + CCL2- monocytes, CD16+ monocytes, cDC and pDC from each patients’ group. Box plots indicate here the minimum value, the first quartile, the median, the third quartile, and the maximum value. C IL-18, TNF-α, NFκB and TLR4 signaling Gene expression signatures in monocytes from each patients’ group. The size of the dot represents the percentage of cells in the clusters expressing the gene expression signature and the color intensity represents the average expression of the signature in that cluster. D Enriched GO functions of up-regulated pathways in monocytes from VEXAS versus healthy controls. E Detailed analysis of the two most up-regulated pathways in monocytes from VEXAS, i.e. TNF-α signaling via NF∣B pathway and hypoxia. F Enriched GO functions of up-regulated and down-regulated pathways in monocytes from VEXAS versus healthy controls. G Detailed analysis of the two most down-regulated pathways in monocytes from VEXAS, i.e. PI3K/AKT/mTOR signaling and complement pathways. H Top pathways enriched for pathway analysis through Wikipathways in dysregulated genes in monocytes from VEXAS versus healthy controls. I Expression levels in each monocyte subsets of TYROBP, encoding for DAP12, and CTNNB1, encoding catenin beta-1,in each patients’ group.
