Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis

Abstract excerpt

ABSTRACT Background Heterozygous loss-of-function mutations in the tumour necrosis factor alpha induced protein 3 (TNFAIP3) gene cause an early-onset auto-inflammatory disease named haploinsufficiency of A20 (HA20). Here we describe three unrelated patients with autoimmune lupus nephritis (LN) phenotypes carrying three novel mutations in the TNFAIP3 gene. Methods Whole-exome sequencing (WES) was used to identify...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to interferon and immune responses
• Share to NF-κB Signaling Pathways
• Share to Systemic Lupus Erythematosus Research