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