Sökning: "Kim Göransdotter Ericson"

Hittade 1 avhandling innehållade orden Kim Göransdotter Ericson.

1. 1. Genetic studies of familial hemophagocytic lymphohistiocytosis

   Författare :Kim Göransdotter Ericson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Familial hemophagocytic lymphohistiocytosis FHL ; PRF1 gene; MUNC13-4 gene; NK cells; cytotoxic T lymphocytes;

   Sammanfattning : The main contribution from this thesis is a refined knowledge of locus heterogeneity in familial hernophagocytic lympbohistiocytosis (FHL) and a further characterization of corresponding clinical and immunological phenotypes. Familial hemophagocytic lymphohistiocytosis is a fatal autosomal recessive immune deficiency clinically characterized by fever, cytopenia, hepatosplenomegaly, and hemophagocytosis. LÄS MER