Fig. 1: DEGs in PBMC from HDs and patients carrying TLR7 variants stimulated with IMQ.

A–C Volcano plots showing DEGs. Red dots show upregulated genes (log2FC ≥ 1.5 with adjusted p value ≤ 0.05) and blue dots represent downregulated genes (log2FC ≤ −1,5; adjusted p value ≤ 0.05). The DEGs with the top 50 absolute FC are reported. A Three healthy donors. B Patients (n = 3) carrying the Ala288Val, Ala488Val, and Val219 Ile variants. C Patients carrying Ala1032Thr (n = 1) and Ser301Pro (n = 1) variants. Gene Ontology biological process terms significantly overrepresented among the genes increased by IMQ are shown in the lower panel in (A, B, D). Heatmap of logCPM values for the top DEGs in HDs and patients carrying TLR7 variants after IMQ stimulation. IMQ imiquimod, NS non stimulated.