Primary immunodeficiency associated hemophagocytic lympohistiocytosis / 国际儿科学杂志

ABSTRACT

Hemophagocytic lymphohistiocytosis (HLH) is classified into primary and secondary HLH according to the etiology.Primary HLH includes familial HLH and primary immunodeficiency HLH.Primary immunodeficiency HLH includes Chediak-higashi syndrome,Griscelli syndrome Ⅱ,Hermansky-Pudlak syndrome Ⅱ,X-linked lymphoproliferative syndrome I,X-linked lymphoproliferative syndrome Ⅱ and so on.These diseases may develop into HLH because of mutations in genes resulting in impaired function of natural killer cells and T cells,macrophage activation and extreme inflammation.The common clinical manifestations are repeated infection,prolonged fever,hepatosplenomegaly,cytopenia,hemophagocytosis in bone marrow,elevated ferritin,low fibrinogen and so on.The immunochemotherapy of dexamethasone,etoposide,cyclosporine A can be an effective remission-inducing treatment.Hematopoietic stem cell transplantation is the only known cure of the primary immunodeficiency HLH.