Familial hemophagocytic lymphohistiocytosis 5 is an autosomal recessive siorder caused by mutations of the STXBP2 gene. It is characterized by pancytopenia pertially due to phagocytosis of blood cells and bone marro replacement by histiocytocis.
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Sparber-Sauer M et al. (2009) Patients with early relapse of primary hemophagocytic syndromes or with persistent CNS involvement may benefit from immediate hematopoietic stem cell transplantation. |
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Beutel K et al. (2009) Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin. |
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zur Stadt U et al. (2009) Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. |
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Côte M et al. (2009) Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. |
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Cetica V et al. (2010) STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. |