Fig. 1: Phenotype and cell death levels in DADA2 patients.
From: ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances
A Cell death of healthy control (HC) and DADA2 (P) CD14+ monocytes was measured after 5 h incubation in vitro by flow cytometry. Dead cells were identified by staining with Annexin V and Zombie® viability dye. The bottom part of the figure depicts the clinical phenotype of the patients at the time of sampling. Patients P1 and P2 as well as P5 and P6 are siblings. B Symptoms captured by the DADA2 activity index (DADA2AI) are displayed assigned to the corresponding disease phenotype [13, 14]. Below, the predominant phenotype of the included patients is indicated by colour (red = inflammatory / vasculitic, yellow = haematologic, blue = immunodeficient). Detailed information is provided in Supplementary Table S1. C Correlation of type I interferon signature in whole blood (left panel) or disease activity measured by DADA2AI (right panel) with cell death levels of CD14+ monocytes from healthy controls (HC) and DADA2 patients measured by flow cytometric measurement of staining with Annexin V and Zombie® viability dye. The interferon score was determined by qPCR as described by Rice et al. [36]. The green band indicates the normal reference range.
