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- W3030193728 abstract "Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a rare and life-threatening hematological disorder.HLH is caused by the uncontrolled proliferation and activation of lymphocytes and macrophages, which secrete cytokines.The storm of cytokines can lead to systemic inflammatory response.HLH has been categorized as primary HLH and secondary HLH.Over the last decades, researches in the genetics show that gene mutations play an important role in the pathogenesis of primary HLH, including twelve gene mutations and four reported gene mutations.In addition, there are three unknown but high frequency gene mutations, which may present hemophagocytic syndrome-like clinical manifestations.The genetics of primary HLH has become the focus, and also is critical in the diagnosis and treatment of HLH.Key words: Primary hemophagocytic lymphohistiocytosis; Gene mutation; Pathogenesis; Immune regulation" @default.
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- W3030193728 date "2018-07-26" @default.
- W3030193728 modified "2023-09-23" @default.
- W3030193728 title "Progress in genetics of primary hemophagocytic lymphohistiocytosis" @default.
- W3030193728 doi "https://doi.org/10.3760/cma.j.issn.1673-4408.2018.07.001" @default.
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