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Article

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.

Pediatric blood & cancer - 15 Jul 2010

Marsh Rebecca A, Satake Noriko, Biroschak Jennifer, Jacobs Thedia, Johnson Judith, Jordan Michael B, Bleesing Jack J, Filipovich Alexandra H, Zhang Kejian

Abstract excerpt

BACKGROUND: Mutations in STX11 are responsible for Familial Hemophagocytic Lymphohistiocytosis (FHLH) type 4, a rare primary immunodeficiency which has previously been observed only in patients of Kurdish, Turkish, and Lebanese ethnic background. METHODS: We reviewed our experience with STX11 mutations among North American patients and studied the impact of patient mutations upon syntaxin 11 expression and NK...

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Source

Identifiers

PMID: 20486178
DOI: 10.1002/pbc.22499

Genes

STX11
PRF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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