Fig. 1: Mass cytometry of HPS-1 PBMCs identifies distinct inflammatory monocyte populations.

a FlowSOM analysis of CyTOF data defines 100 cell clusters (individual nodes) organized into 13 metaclusters (node number and color) for 12 controls and 8 HPS-1 patients. We denoted clusters with surface markers that resembled particular cell types. b Specific metacluster 11 and metacluster 5 cell clusters are significantly associated with HPS-1 patients. Metacluster 11.1 was defined by CXCR3, CD64++, CD62L++, metacluster 11.2 by Beta7++, CD64++, CD62L++ and 11.3 by CD16. c Principal component analysis of FlowSOM clusters separates HPS-1 patients and healthy controls. d viSNE analysis of CD14+ monocytes defines distinct populations of monocytes in patients with HPS-1 highly expressing CD62L and CD64. e Histogram of marker expression in patients with HPS-1 or Healthy Controls. f Heatmap with hierarchical clustering of inflammatory proteins of O-link inflammation panel for 50 controls, 5 HPS-1, 2 HPS-1 PF, and 4 HPS-1 IBD patients. g Dot plots of IL-1α and TNF protein expression. h Principal component analysis of the O-link inflammatory panel. For CyTOF analysis, populations are compared with an unpaired t-test with Bonferroni-Dunn correction for multiple comparisons. Data are mean+/− SEM. *P < 0.05 **P < 0.01 ***<0.001. All P values are adjusted. For O-link analysis, the Benjamini, Krieger, and Yekutieli multiple nonparametric t-test was performed, ***adjusted p < 0.001, ****adjusted p < 0.0001.