Article
Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20.
Frontiers in immunology - 1 Jan 2020
Chen Yu, Ye Zhenghao, Chen Liping, Qin Tingting, Seidler Ursula, Tian De'an, Xiao Fang
Abstract excerpt
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 the A20 ovarian tumor (OTU) domain and/or the zinc finger (ZnF) domain. This study aims at exploring the association between the various manifestations of HA20 and...
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