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Gain-of-function STAT1 mutations increase PD-L1 expression. A, Pedigree with patients (black) and carriers (gray) heterozygous at STAT1 nucleotide 705. B, Increased STAT1 phosphorylation in IL-21 treated T-cells from patients (filled), compared to controls (solid) and unstimulated (dashed). C, Reduced TH17-cell frequencies in E235A STAT1 patients. D, PD-L1 overexpression on CD3+CD4+CD62L+CD45RO− cells from subjects with STAT1 mutations (filled) versus controls (solid).
