(A) Persistently pathologically elevated interferon-stimulated gene and (B) neutrophil signature gene transcripts in patient at indicated time points. The y axis shows transcript abundance in arbitrary units (relative quantification [RQ] values) for indicated genes. (C) Pedigree. (D) Capillary sequencing of PCR amplicons. P, proline substituted by L, leucine. (E) Increased transcription of proinflammatory cytokines TNF-α, IL-1b, and IL-6 in patient PBMCs stimulated with TLR7/8 ligand CL097 or polyI:C. US, unstimulated. (F) Increased TLR7 protein expression in patient PBMC subsets quantitated by (G) flow cytometry. Representative of 2 independent experiments. (H) TLR7 protein expression detected by immunoblotting of transfected HEK293T cells 48 hours after transfection. (I) NF-κB activity by dual luciferase assay after TLR7 plasmid transfection into HEK293T cells and treatment with indicated TLR7 ligands. Luminescence signal normalized to unstimulated cells from 4 independent experiments. Two-way ANOVA, **P < 0.01, ****P < 0.0001. Data represent mean ± SD.