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. 2019 Sep;144(3):863–866.e5. doi: 10.1016/j.jaci.2019.05.026

Fig 2.

Fig 2

Enhanced type 1 interferon signaling in immune cells derived from patients with the heterozygous p.T647P variant in TNFAIP3.A, Type 1 interferon–stimulated gene expression levels were upregulated in whole blood from subject III.1, with levels comparable with those seen in a patient with stimulator of interferon genes vasculopathy with onset in infancy (SAVI). Control data were derived from 13 subjects. B and C, There was increased expression of phosphorylated IRF3 in lymphocytes from all heterozygotes for p.T647P TNFAIP3 (P = .0007) and in HDFCs from subject III.1 (P = .009) compared with control cells. D and E, Lymphocytes from p.T647P TNFAIP3 heterozygotes demonstrated increased STAT1 and STAT3 expression (P = .0001). F, Treatment with an oral JAK1/2 inhibitor resulted in a significant decrease in type I interferon gene expression. G and H, In fibroblasts derived from subject III.1, there was impaired ability of the p.T647P A20 protein to bind to TBK1 in response to TNF-α. I, Pedigree for a family of patients with heterozygous p.N98Tfs25 TNFAIP3–associated autoinflammation. J-L, There was also increased expression of phosphorylated IRF3 (P = .0001), STAT1 (P = .0013), and STAT3 (P = .009) in lymphocytes derived from the p.N98Tfs25 TNFAIP3 heterozygote compared with control cells.