Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Figures

• 

  Fig. 1. Flow chart showing inclusion/exclusion criteria for study participation. The number of measurements (samples) is given, together with the number of individuals/number of families below/in brackets. Treatment* refers to samples excluded (n = 93) because patients were on reverse transcriptase or JAK inhibitors

• 

  Fig. 2. Interferon score plotted for each sample according to genotype/phenotype. a 455 group 1 patient samples. b 30 group 2 patient samples. c 340 group 3 patient samples. Black horizontal lines represent the median for each patient group. Interferon scores calculated from the median fold change in RQ (relative quantification) values of a panel of six interferon-stimulated genes (ISGs). Blue dots represent an interferon score of less than 2.466. Red dots represent an interferon score of greater than 2.466. Magenta dots represent patients treated with IL1 blockade. Analyzed by one-way ANOVA with Dunnett’s multiple comparison test

• 

  Fig. 3. Median fold expression of six interferon-stimulated genes according to genotype. Median relative quantification (RQ) value for each of six interferon-stimulated genes (ISGs) measured in a 74 TREX1, 11 RNASEH2A, 115 RNASEH2B, 16 RNASEH2C, 45 SAMHD1, 52 ADAR1, and 59 IFIH1 samples with a positive (>2.466) interferon score; b 14 ACP5, 14 TMEM173, four C1QA, and five ISG15 samples with a positive (>2.466) interferon score; c 101 JDM, 21 sJIA, 58 autoinflammatory, 72 molecularly undefined interferonopathy, 78 JSLE, and ten pJIA. RQ is equal to 2−∆∆Ct, i.e., the normalized fold change relative to a control

• 

  Fig. 4. Interferon scores in patients where four or more serial samples were recorded. Data shown are interferon scores plotted against time (years) since first sampling. Interferon scores are calculated from the median fold change in relative quantification (RQ) values for a panel of six interferon-stimulated genes (ISGs). The blue dashed line represents the boundary of a positive/negative score (2.466). The number of serial samples for each patient is shown in brackets in the legend