Article
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Dec 2014
Kaufman Kenneth M, Linghu Bolan, Szustakowski Joseph D, Husami Ammar, Yang Fan, Zhang Kejian, Filipovich Alexandra H, Fall Ndate, Harley John B, Nirmala N R, Grom Alexei A
Abstract excerpt
OBJECTIVE: Macrophage activation syndrome (MAS), a life-threatening complication of systemic juvenile idiopathic arthritis (JIA), resembles familial hemophagocytic lymphohistiocytosis (HLH), a constellation of autosomal-recessive immune disorders resulting from deficiency in cytolytic pathway proteins. We undertook this study to test our hypothesis that MAS predisposition in systemic JIA could be attributed to...
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