Novel UNC13D intronic variant disrupting a NF κB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis

ConclusionThese findings highlight that intronic variants in key regulatory regions may be associated with MAS in patients with SJIA, and support deep sequencing approaches when causative coding variants are not identified.This article is protected by copyright. All rights reserved.

Source: Arthritis and Rheumatism - February 6, 2018 Category: Rheumatology Authors: Grant S. Schulert, Mingce Zhang, Ammar Husami, Ndate Fall, Hermine Brunner, Kejian Zhang, Randy Q. Cron, Alexei A. Grom Tags: Brief Report Source Type: research