Figure 2
From: Mutations in CECR1 associated with a neutrophil signature in peripheral blood
Gene expression studies. Quantitative reverse transcription PCR (qPCR) of a panel of six interferon stimulated genes (ISGs) and six neutrophil-expressed genes in whole blood measured in CECR1 mutation-positive probands, SAMHD1 mutation-positive probands and controls. Bar graph showing relative quantification (RQ) values for a panel of six interferon stimulated genes (ISGs) (IFI27, IFI44L, IFIT1, ISG15, RSAD2, SIGLEC1) and six neutrophil-expressed genes (CEACAM6, CRISP3, DEFA4, LCN2, LTF, MMP8) measured in whole blood in two ADA2 mutation positive patients, and two SAMHD1 mutation positive patients, compared to a healthy control. RQ is equal to 2-∆∆Ct, with -∆∆Ct ± standard deviations (i.e. the normalized fold change relative to a calibrator). Each value is derived from three technical replicates. Numbers in brackets refer to decimalized age at sampling, followed by interferon score calculated from the median fold change in relative quantification value for the panel of six ISGs. Colors denote individuals, with repeat samples (biological replicates) denoted by different bars of the same color.