Figure 3.

Inborn errors of immunity associated with eosinophilia and elevated IgE. Volcano plots show the proportion of eosinophilia and elevated IgE on the x-axis. The y-axis shows the -log10 of the adjusted p-value based on the two-proportion z-test, performed by comparing the proportion of eosinophilia/elevated IgE for each gene to the proportion of values in the reference population falling above the upper limit of normal (2.5%). Dotted line indicates the significance threshold of the adjusted p-value at 0.05 and genes above the line are statistically significant. HGNC gene symbols used. (A) IEIs caused by monogenic defects in 29 genes (red) were found to be significantly associated with eosinophilia compared to the reference population age stratified upper limit. (B) IEIs caused by monogenic defects in 15 genes (red) were found to be significantly associated with elevated IgE compared to the age stratified upper limit.