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Familial hemophagocytic lymphohistiocytosis 5

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.

Systematic

Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis 1
Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis 4
Familial hemophagocytic lymphohistiocytosis 5
STXBP2

References:

1.

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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2.

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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3.

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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4.

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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5.

Cetica V et al. (2010) STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

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Update: Aug. 14, 2020
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