Hemophagocytic lymphohistiocytosis, familial, 2

Common Name(s)

Hemophagocytic lymphohistiocytosis, familial, 2

Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; {147570}) and TNF-alpha ({191160}), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by {4:Dufourcq-Lagelouse et al., 1999}, {8:Stepp et al., 1999}, and {7:Molleran Lee et al., 2004}). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.
 

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