STUDY PURPOSE Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages. In this study, we aimed to explore the genetic factors involved in the pathogenesis of both acquired and familial type HLH. METHOD The ION TORRENT semi-conductor sequencing method was used to sequence sa...

The exocytosis of cytotoxic proteins stored in lytic granules of activated CTL is a key event during killing of target cells. Membrane fusion events that are mediated by soluble N-ethylmaleimide-sensitive-factor attachment protein receptor (SNARE) proteins are crucial, as demonstrated by patients with familial hemophagocytic lymphohistocytosis type 4 who have mutations in the SNARE protein synt...

Hemophagocytic syndrome is a non-malignant process that is characterized clinically by fever, hepatomegaly, splenomegaly, pancytopenia in peripheral blood, and reactive histiocytes in the bone marrow. Bacterial infectious diseases like typhoid fever and brucellosis and viral infections including CMV, herpes viruses, and Epstein-Barr virus are diagnosed as the cause of this syndrome. In thi...

hemophagocytic lymphohistiocytosis (hlh) is an aggressive and potentially life-threatening disease and has to be considered in the differential diagnosis of many conditions. hlh comprises two different conditions that are difficult to differentiate; familial hemophagocytic lymphohistiocytosis (fhlh) or familial erythrophagocytic lymphohistiocytosis (fel), and secondary hemophagocytic syndromes ...

Sanchez and colleagues1 report a case of histoplasmosis-associated reactive hemophagocytic syndrome in a 61-year-old HIV-infected man. The association of hemophagocytic syndrome with HIV infection is important for several reasons: (1) Many of the features of the hemophagocytic syndrome are not specific in this setting, and, hence, may be easily overlooked or misdiagnosed. (2) The hemophagocytic...

BACKGROUND Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary...

hemophagocytic syndrome is a non-malignant process that is characterized clinically by fever, hepatomegaly, splenomegaly, pancytopenia in peripheral blood, and reactive histiocytes in the bone marrow. bacterial infectious diseases like typhoid fever and brucellosis and viral infections including cmv, herpes viruses, and epstein-barr virus are diagnosed as the cause of this syndrome. in this pap...

Introduction Hemophagocytic syndrome or hemophagocytic lymphohistiocytosis is a rare condition characterized by excessive inflammation that is thought to be caused by the absence of normal downregulation of activated macrophages and lymphocytes. The treatment of hemophagocytic lymphohistiocytosis can depend on whether it is primary or secondary. In secondary hemophagocytic lymphohistiocytosis, ...