Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial hemophagocytic lymphohistiocytosis 4

Familial hemophagocytic lymphohistiocytosis 4 is an autosomal recessive siorder caused by mutations of the STX11 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
STX11
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.

zur Stadt U et al. (2005) Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

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3.

Rudd E et al. (2006) Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.

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4.

Müller ML et al. (2014) An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

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Update: Oct. 17, 2019