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Article

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

American journal of human genetics - 1 Oct 2009

zur Stadt Udo, Rohr Jan, Seifert Wenke, Koch Florian, Grieve Samantha, Pagel Julia, Strauss Julia, Kasper Brigitte, Nürnberg Gudrun, Becker Christian, Maul-Pavicic Andrea, Beutel Karin, Janka Gritta, Griffiths Gillian, Ehl Stephan, Hennies Hans Christian

Abstract excerpt

Rapid intracellular transport and secretion of cytotoxic granules through the immunological synapse requires a balanced interaction of several proteins. Disturbance of this highly regulated process underlies familial hemophagocytic lymphohistiocytosis (FHL), a genetically heterogeneous autosomal-recessive disorder characterized by a severe hyperinflammatory phenotype. Here, we have assigned FHL-5 to a 1 Mb region...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19804848
DOI: 10.1016/j.ajhg.2009.09.005
PMCID: PMC2756548

Genes

STXBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.PMID 19804848Read ↗

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