Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia

Purpose Tumor necrosis factor alpha-induced protein 3 (TNFAIP3, A20) is a negative regulator of the nuclear factor-κB (NF-κB) pathway. It has recently been recognized that TNFAIP3 deficiency leads to early onset of autoinflammatory and autoimmune syndrome resembling Behcet’s disease. Here, we report a novel mutation in TNFAIP3 in a Chinese patient, who had Behcet-like phenotype and persistent Epstein-Barr virus (EBV) viremia.