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Diagnostic Accuracy of a Specific Cytokine Pattern in Hemophagocytic Lymphohistiocytosis in Children

โœ Scribed by Xiao-Jun Xu; Yong-Min Tang; Hua Song; Shi-Long Yang; Wei-Qun Xu; Ning Zhao; Shu-Wen Shi; He-Ping Shen; Jun-Qing Mao; Ling-Yan Zhang; Bin-Hua Pan


Book ID
113747075
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
312 KB
Volume
160
Category
Article
ISSN
1097-6833

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Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal-recessive disease that affects young children. It presents as a severe hyperinflammatory syndrome with activated macrophages and T lymphocytes. Mutations in the perforin 1 gene (PRF1) were found in FHL-2 in 15-50% of all cases. Defect