Figure 3. Effect of CARD9 Mutations on CARD9 Expression and Function.
Panel A shows flow cytometric expression of CARD9 in monocyte-derived dendritic cells (MDDCs) in Patients 12 and 17 and controls. Panel B shows interleukin-6 production by whole-blood cells from patients with Q289X/Q289X and R101C/R101C CARD9 genotypes after 48 hours, as measured by enzyme-linked immunosorbent assay on stimulation with zymosan, heat-killed Candida albicans (HK C. alb), heat-killed Saccharomyces cerevisiae (HK S. cer), lipopolysaccharide (LPS), and phorbol 12-myristate 13-acetate plus ionomycin (PMA+Iono). NS denotes unstimulated. The asterisks indicate values below 100 pg per milliliter, and the T bars the standard deviation. Panel C shows impaired development of interleukin-17–producing T cells in patients homozygous for the R101C or Q289X CARD9 mutations.