Abstract
Hemophagocytic lymphohistiocytosis(HLH)is a life-threatening syndrome characterized by multiple organs infiltrations of lymphocytes and histiocytes with proliferation and hemophagocytic activity,and pancytopenia.HLH can be classified as either primary or secondary.Primary HLH includes familial HLH and immune deficiency syndromes associated HLH.Until now, familial HLH is classified into five types, whereas,immune deftciencv svndromes associated HLH is divided into Chediak-Higashi syndrome, GrisceUi syndrome 2,research of primary HLH. screening genetic defects and researches in functions of target genes and coding proteins, the effect of these genes and proteins in pathogenesis of HLH could be known further. Key words: Hemophagocytic lymphohistiocytosis; Primary; Gene mutation
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