Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Annals of laboratory medicine - 1 Mar 2016

Sultanova Ardak K, Kim Seong-koo, Lee Jae Wook, Jang Pil-Sang, Chung Nack-Gyun, Cho Bin, Park Joonhong, Kim Yonggoo, Kim Myungshin

Abstract excerpt

We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenomegaly, and HLH in the bone marrow. Under the impression of HLH, genetic study revealed a novel homozygous missense...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Marrow
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Lymphohistiocytosis, Hemophagocytic

Share to Mutation, Missense

Share to Qa-SNARE Proteins

Share to Republic of Korea

Share to Sequence Alignment

Source

Open in PubMed Open full text

Identifiers

PMID: 26709266
DOI: 10.3343/alm.2016.36.2.170
PMCID: PMC4713852

Genes

STX11

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.PMID 26709266Read ↗

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

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

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defectSemantic proximity Read ↗

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.Semantic proximity Read ↗

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

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

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

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.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 ↗

Syntaxin 11 is required for NK and CD8⁺ T-cell cytotoxicity and neutrophil degranulation.Semantic proximity Read ↗

STX11 p.R129P variant correlate with an in vitro impairment in NK and CD8+ T-cell-mediated cytotoxicitySemantic proximity Read ↗

Syntaxin binding mechanism and disease-causing mutations in Munc18-2Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.