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Article

Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

Journal of clinical immunology - 1 Mar 2010

Danielian Silvia, Basile Natalia, Rocco Carlos, Prieto Emma, Rossi Jorge, Barsotti Darío, Roche Paul A, Bernasconi Andrea, Oleastro Matías, Zelazko Marta, Braier Jorge

Abstract excerpt

INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease with major diagnostic and therapeutic difficulties, basically comprising two different conditions: primary and secondary forms. Recent advances regarding molecular diagnosis may be useful to distinguish from one another, especially in sporadic cases starting in early infancy. MATERIALS AND METHODS: In this report, we evaluated...

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Source

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Identifiers

PMID: 19967551
DOI: 10.1007/s10875-009-9350-4
PMCID: PMC7370861

Genes

STX11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.PMID 19967551Read ↗

A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.Semantic proximity Read ↗

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.Semantic proximity Read ↗

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignanciesSemantic proximity Read ↗

Novel STXBP2 mutation causing familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.Semantic proximity Read ↗

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11Semantic proximity Read ↗

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.Semantic proximity Read ↗

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

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.Semantic proximity Read ↗

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.Semantic proximity Read ↗

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