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disease: Hemophagocytic lymphohistiocytosis, familial, 4

id5240
nameHemophagocytic lymphohistiocytosis, familial, 4
descriptionFamilial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
variant-disease NM_003764.3(STX11):c.668A>C (p.Asp223Ala) AND Hemophagocytic lymphohistiocytosis, familial, 4
NC_000006.12:g.(?_144186608)_(144187511_?)del AND Hemophagocytic lymphohistiocytosis, familial, 4
NM_003764.3(STX11):c.281A>G (p.Lys94Arg) AND Hemophagocytic lymphohistiocytosis, familial, 4
NM_003764.3(STX11):c.839G>A (p.Cys280Tyr) AND Hemophagocytic lymphohistiocytosis, familial, 4
NM_003764.3(STX11):c.829A>G (p.Thr277Ala) AND Hemophagocytic lymphohistiocytosis, familial, 4
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