Panel a features two bubble plots
comparing gene ontology (GO) enrichment in biological processes. The left
bubble plot compares proband versus parents, with the x-axis labeled
GeneRatio and the y-axis listing biological processes such as regulation of
innate immune response and leukocyte-mediated immunity. The size of the
bubbles indicates the count, and the color represents the adjusted p-value.
The right bubble plot compares proband versus healthy donor, with similar
axes and labeling. Panel b contains two volcano plots showing differential
gene expression. The left plot compares proband versus parents, with the
x-axis labeled Log2 (fold change) and the y-axis labeled -Log10 (p-value).
Upregulated genes are marked in red, downregulated in blue, and not
significant in grey. The right plot compares proband versus healthy donor,
with the same axes and labeling. Key genes SAMHD1, EIF2AK2, ISG15, USP18 and
IFI44L are labelled in both plots.
Elevated innate immune transcriptional signature and reduced expression of SAMHD1. RNA was extracted from PBMCs isolated from the patient, parents, or healthy donors; RNA-seq was performed, and DEGs were determined between the patient and parents (left panels) or the patient and healthy donors (right panels). (a) GO analysis of significant DEGs showing the 10 most differentially regulated pathways for each comparison. Overrepresented sets of DEGs are shown by the circle size and colored by the degree of statistical significance. (b) Volcano plots of candidate DEGs providing a magnitude measure of expression change (log2FC) and statistical significance (P value). P value <0.05 and absolute log2FC >0.6 are colored blue (downregulated) or red (upregulated). SAMHD1 and a selection of common ISGs are labeled.