Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20
Background: Haploinsufficiency A20 (HA20) is a newly described monogenic disease characterized by a wide spectrum of manifestations and caused by heterozygous mutations in TNFAIP3 which encodes A20 protein. TNFAIP3 mutation leads to disruption of...