A De Novo Frameshift Mutation in TNFAIP3 Impairs A20 Deubiquitination Function to Cause Neuropsychiatric Systemic Lupus Erythematosus

ConclusionsThe mutant A20 may play a role in weakening the tight junction of the blood-brain barrier to cause neurologic symptoms. We report a rare variant ofTNFAIP3 in a patient with NPSLE and reveal its autoimmune disease –causing mechanism in both peripheral tissues and the central nervous system.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research