Characteristics of neutrophils with MMD2 mutations. (A) MMD2 expression, as assessed by real-time PCR on mRNA from patient’s (A-III-2 and A-III-4) and healthy subjects n = 3–5. (B) Immunoblotting analysis of MMD2 expression in neutrophils, monocytes, and lymphocytes from patient’s (A-III-2 and A-III-4) and healthy subjects. (C) Neutrophil chemotaxis induced by fMLP (100 nM, 4 h) was decreased in patients A-III-2, A-III-4, and B-III-1 compared with that in healthy subjects (H1, H2, H3, and H4) n = 5. (D) UMAP visualization in protein expression profiles of MMD2 patients (n = 3; blue) and healthy controls (n = 5; red). (E) Top-10 GO terms significantly upregulated or downregulated in MMD2 patients compared with healthy controls (P value <0.05). The color scale indicates the P value, and the size of the circle indicates the number of genes in the GO term. The Rene ratio indicates the number of core genes against the number of genes in the pathway. (F) GSEA plot of significantly suppressed GO terms. Proteins are ranked in decreasing order based on log 2 fold change of the differentially expression analysis. The color scale in the bottom graph shows upregulated (red) and downregulated (blue) expression in MMD2 patients. (G) Hierarchical clustering analysis based on differentially expressed proteins. The color scale shows log₂ fold change comparing MMD2 patients with healthy controls, with red indicating upregulation and blue indicating downregulation. (H) GO analysis of downregulated proteins in MMD2 patients. The x axis shows the log₁₀ P value of enriched GO terms. Source data are available for this figure: SourceData F2.