Search for dissertations about: "Eva Rudd"

Found 1 swedish dissertation containing the words Eva Rudd.

2. 1. Genetic and cellular studies of familial hemophagocytic lymphohistiocytosis

   Author : Eva Rudd; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Familial hemophagocytic lymphohistiocytosis; PRF1; STX11; UNC13D; degranulation; genotype; phenotype;

   Abstract : Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive and genetically heterogeneous disorder of immune dysregulation with an incidence of 1/50000 live births that is inevitably fatal without appropriate treatment. The disease is characterized by fever, hepatosplenomegaly, cytopenias, hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia and, sometimes, hemophagocytosis in bone marrow and/or other organs such as liver, spleen or lymph nodes. READ MORE