Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization

• Published in: Frontiers in immunology Vol. 13; p. 955079
• Main Authors: Tian, Yi, Wu, Bingxuan, Peng, Linyi, Wang, Jian, Shen, Min
• Format: Journal Article
• Language: English
• Published: Frontiers Media S.A 26.07.2022
• Subjects: autoantibody; familial behçet’s syndrome; haploinsufficiency of A20; Immunology; TNFAIP3; whole-exon gene sequencing

Haploinsufficiency of A20 (HA20) is a newly described rare autoinflammatory disease caused by TNFAIP3 gene mutations. HA20 has seldom been documented in the Chinese population. Herein, we report eight patients with HA20 from three unrelated families in China.ObjectiveHaploinsufficiency of A20 (HA20)...