To the Editor:
Pathogenic variants in tumor necrosis factor alpha-induced protein 3 (TNFAIP3) produce autosomal dominant, early-onset autoinflammatory disease. TNFAIP3 encodes A20 cytoplasmic zinc finger protein, which inhibits cytokine induced apoptosis.1 Clinical signs include mucosal ulcerations, rash, uveitis, and polyarthritis.2,3 We describe distinct presentations of autoimmune hepatitis (AIH) and immune activation profiles in pathogenic TNFAIP3 variants in four patients from three families. Patients/families received informed consent and the research protocol was approved by the Institutional Review Board (CCHMC IRB# 2017-2284). TNFAIP3 mutations were identified using research whole exome sequencing and commercial testing.4 Whole blood RNA was purified using MagMAX™ for Stabilized Blood Tubes RNA Isolation Kit, and then NanoString quantitation of interferon response genes (IRGs, n = 28/14) using nCounter Dx Analysis System. Forty-six healthy controls generated the 97.5th percentile Z-score.5
