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Familial hemophagocytic lymphohistiocytosis 3

Familial hemophagocytic lymphohistiocytosis 3 is an autosomal recessive siorder caused by mutations of the UNC13D 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
UNC13D
Familial hemophagocytic lymphohistiocytosis 4
Familial hemophagocytic lymphohistiocytosis 5

References:

1.

Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

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2.

Feldmann J et al. (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

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3.

Santoro A et al. (2006) Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

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4.

Rudd E et al. (2008) Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

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Update: Aug. 14, 2020
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