Fig. 2.

Diagnostic analysis of disease-causing genes and Correlation analysis of proteomics and T-RNA-seq. A–D) The bar plot shows the distribution of disease-causing protein and mRNA expression levels per sample. Throughout the figure, protein expression is shown at the top and mRNA expression is shown at the bottom; the case is shown in black, and other samples are shown in gray. A) BTK deficiency, B) XIAP deficiency, C) ADA2 deficiency, and D) LRBA deficiency. E–H) Decreased expression of disease-causing proteins compared to healthy controls (HCs). MA plot shows that the disease-causing protein is prominently downregulated (left panel). The x-axis shows the log mean expression of each protein, and the y-axis shows the log fold change of protein expression between the patient and HCs. The plots shown on a straight line in the lower left of the figure are proteins showing the MVs in the patients. The right panel shows the distribution of disease-causing protein expression in the patient and HCs. E) BTK deficiency, F) XIAP deficiency, G) ADA2 deficiency, and H) LRBA deficiency.