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Sammanfattning : 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. LÄS MER