Article
Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Jun 2018
Schulert Grant S, Zhang Mingce, Husami Ammar, Fall Ndate, Brunner Hermine, Zhang Kejian, Cron Randy Q, Grom Alexei A
Abstract excerpt
OBJECTIVE: Macrophage activation syndrome (MAS) is a life-threatening complication of systemic juvenile idiopathic arthritis (JIA) and has pathologic similarity to hemophagocytic lymphohistiocytosis (HLH). Intronic variants in UNC13D are found in patients with familial HLH type 3 (FHLH3), but the role of noncoding variants in MAS is unknown. The objective of this study was to identify deep intronic UNC13D...
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