Primary immunodeficiency associated hemophagocytic lympohistiocytosis
10.3760/cma.j.issn.1673-4408.2012.06.027
- VernacularTitle:原发性免疫缺陷病相关性噬血细胞综合征
- Author:
Wendi LI
- Publication Type:Journal Article
- Keywords:
Hemophagocytic lymphohistiocytosis;
Primary immunodeficiency;
Diagnosis;
Therapy
- From:
International Journal of Pediatrics
2012;(6):631-634
- CountryChina
- Language:Chinese
-
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.
