Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3

In conclusion, clinical manifestations are diverse in patients with HA20, even in those with the sameTNFAIP3 mutation. A20 inhibits the NF- κB pathway and plays a crucial role in the regulation of cell death. Haploinsufficiency of A20 leads to defects in both innate and adaptive immunity.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research