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Article

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Journal of medical genetics - 1 Sept 2010

Cetica Valentina, Santoro Alessandra, Gilmour Kimberly C, Sieni Elena, Beutel Karin, Pende Daniela, Marcenaro Stefania, Koch Florian, Grieve Samantha, Wheeler Rachel, Zhao Fang, zur Stadt Udo, Griffiths Gillian M, Aricò Maurizio

Abstract excerpt

BACKGROUND: Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is usually fatal unless promptly treated and then cured with haematopoietic stem cell transplant. FHL is caused by genetic mutations resulting in defective cell cytotoxicity; three disease related genes have been...

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Topics

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Share to Cell Degranulation
Share to Cytotoxicity, Immunologic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Flow Cytometry

Share to Immunoprecipitation

Share to Lymphohistiocytosis, Hemophagocytic

Share to Lysosomal-Associated Membrane Protein 1

Share to Munc18 Proteins

Share to T-Lymphocytes, Cytotoxic

Source

Open in PubMed Open full text

Identifiers

PMID: 20798128
DOI: 10.1136/jmg.2009.075341
PMCID: PMC4115259

Genes

STXBP2
FHL5
PRF1
STX11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.PMID 20798128Read ↗

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

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