PReS-FINAL-2186: Monoallelic mutations of familial hlh-related genes associated to macrophage activation syndrome
نویسندگان
چکیده
Introduction Macrophage Activation Syndrome (MAS) is a severe complication of rheumatic diseases, frequently associated with systemic juvenile idiopathic arthritis (sJIA), but also described in others pediatric inflammatory disorders including Juvenile Systemic Lupus Erythematosus (SLE) and Kawasaki disease. Due to the close resemblance to a group of histiocytic disorders collectively known as hemophagocytic lymphohistiocytosis (HLH) it is currently classified among the secondary or acquired forms of HLH, and the term rheu-HLH has been proposed.
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