Figure 1.

Domain structure of A20 and locations of TNFAIP3 gene mutations in East Asian patients with A20 haploinsufficiency (HA20). Mutations of TNFAIP3 reported in East Asia are indicated with arrows on the domain structure of A20. Three mutations whose pathogenic functions were evaluated by in vitro functional analysis are shown in blue squares. Four mutations whose pathogenic functions were not evaluated by in vitro functional analysis are shown in red squares. The mutations overlapping between different families are shown in black squares.