ArticleJournal of medical genetics2010
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 61 citations in OpenAlex.
- Ruxolitinib in adult patients with secondary haemophagocytic lymphohistiocytosis: an open-label, single-centre, pilot trial.The Lancet. Haematology · 2019Trial
- Clinical features, course, and risk factors of infection-associated secondary hemophagocytic lymphohistiocytosis.Infection · 2025Article
- Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.The Journal of experimental medicine · 2024Article
- Immunology of Cytokine Storm Syndromes: Natural Killer Cells.Advances in experimental medicine and biology · 2024Review
- Lytic granule exocytosis at immune synapses: lessons from neuronal synapses.Frontiers in immunology · 2023Review
- Syntaxin binding protein 2 in sertoli cells regulates spermatogonial stem cell maintenance through directly interacting with connexin 43 in the testes of neonatal mice.Molecular biology reports · 2022Article
- Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.Archivum immunologiae et therapiae experimentalis · 2021Article
- Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis.BMC medical genomics · 2021Article
- Germline Compound Heterozygous Variants Identified in theFrontiers in pediatrics · 2021Article
- Hemophagocytic lymphohistiocytosis is associated with Bartonella henselae infection in a patient with multiple susceptibility genes.Annals of clinical microbiology and antimicrobials · 2020Article
- Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity.International journal of hematology · 2020Article
- Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation ofJournal of pediatric genetics · 2020Article
- Article
- Protein structure and phenotypic analysis of pathogenic and population missense variants inMolecular genetics & genomic medicine · 2017Article
- Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study.Oncotarget · 2017Article
- SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).Journal of clinical immunology · 2015Article
- Article
- The biogenesis of lysosomes and lysosome-related organelles.Cold Spring Harbor perspectives in biology · 2014Review
- Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Frontiers in immunology · 2014Review
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundFamilial 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 identified to date: perforin, Munc13-4 and syntaxin-11. A fourth gene, STXBP2, has been identified very recently as responsible for a defect in Munc18-2 in FHL-5.
aimsTo describe the result of the screening of families with HLH and previously unassigned genetic defects.
methodsPatients with HLH diagnosed according to current diagnostic criteria, and who lacked mutations in the PRF1, Munc13-4, and STX11 genes were sequenced for mutations in STXBP2. Functional study was performed when material was available.
resultsAmong the 28 families investigated, 4 (14%) with biallelic STXBP2 mutations were identified. They originated from Italy, England, Kuwait and Pakistan. The p.Pro477Leu resulting from c.1430C>T, and p.Arg405Gln resulting from the single c.1214G>A nucleotide change are known, while we contribute two novel mutations: p.Glu132Ala resulting from c.395A>C, and p.Gly541Ser, resulting from c.1621G>A. The detrimental effect of the p.Gly541Ser mutation was documented biochemically and functionally in NK and CD8 cells. Additional polymorphisms are also described.
conclusionThese data expand current knowledge on the genetic heterogeneity of FHL and suggest that patients with FHL5 may have different results in degranulation assays under different conditions.
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