Fig. 1: Multi-omics single-cell sequencing analysis of PBMCs from VEXAS patients and healthy donors. | Nature Communications

Fig. 1: Multi-omics single-cell sequencing analysis of PBMCs from VEXAS patients and healthy donors.

From: In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome

Fig. 1

a Overview of the experimental workflow. A figure was created with BioRender. Mizumaki, H. (2025) [https://BioRender.com/n37z398]. b Hemoglobin levels (HGB), platelet counts (PLT), white blood cell counts (WBC), neutrophil counts, monocyte counts, B cell counts, NK cell counts, and T cell counts from VEXAS patients (n = 9). Background shading shows a normal reference range for each parameter. Data are presented as mean and SD. c A Uniform Manifold Approximation and Projection (UMAP) plot of 178,168 cells from all subjects (n = 14, left). UMAP plots of 125,806 peripheral blood mononuclear cells (PBMCs) derived from VEXAS patients (n = 9, upper right) and 52,362 PBMCs derived from healthy donors (n = 5, lower right). Leiden clusters based on 5’ gene expression are shown and colored by major cell types. d A violin plot showing expression distributions of selected canonical marker genes in 10 major cell types. Rows and columns represent selected marker genes and cell types, respectively. e A UMAP plot of cells with projected mutation status assignment for wild-type UBA1 (wtUBA1; n = 18,140 cells) and mutated UBA1 (mtUBA1; n = 1402 cells). f Normalized frequency of mtUBA1 cells in major cell types. Cell types with more than 100 cells were analyzed. gdT gamma delta T cells, MAIT mucosa-associated invariant T cell. Source data are provided as a Source Data file.

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