Fig. 2

Interferon signature analysis, inflammatory cytokine profile and immune phenotyping in patient and family. a: Nanostring analysis for IFN signature genes in the patient (Patient-F = sample taken during flare; Patient-NF, SLE patient with the complement C1R deficiency (SLE) and healthy controls (Control 1–4). Red, elevated expression compared to control; blue, reduced expression compared to control. b: Quantitative reverse transcription (qRT-PCR) analysis of 10 IFN-related genes shows strong upregulation in the proband compared to control. Shown is fold change to control normalized to GAPDH expression. c: Quantitative reverse transcription (qRT-PCR) analysis of IL15 in proband and healthy controls. Shown are the relative expression values of IL15/GAPDH. d: IFN-α2, IL-3, TNF-β and nerve growth factor β (NGFβ) cytokine measurement on whole blood cells from the proband, her parents and 2 brothers. Cells were untreated or stimulated with different stimuli (heat-killed Listeria monocytogenes [HKLM] at 107 bacteria/ml, Poly(I:C) at 10 μg/ml, lipopolysaccharide [LPS] at 1 μg/ml, flagellin [FLA] at 50 ng/ml, imiquimod [Imiqu] at 5 μg/ml, ODN2395 [2395] at 5 μM and Staphylococcal Enterotoxin B [SEB] at 1 μg/ml). e: Quantification of pDCs and intermediate monocytes in the proband, her parents and two brothers. PBMCs were extracted from whole blood and incubated with the monoclonal antibodies anti-CD11c and anti-CD123 for pDC analysis and anti-CD14 and anti-CD16 for the analysis of intermediate monocytes. The data shown here are the only comparisons that achieved nominal statistical significance by the Mann-Whitney U test, which would not withstand correction for multiple comparisons