ArticleAmerican journal of human genetics2009
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 189 papers.
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189 citing papers in PubMed, 414 citations in OpenAlex.
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- Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients.MedComm · 2026Article
- Simultaneous onset of familial hemophagocytic lymphohistiocytosis and T-cell large granular lymphocytic leukemia in an adult.Annals of hematology · 2026Article
- ZNRF1 deficiency disrupts Fas ligand trafficking and immune balance.Cell death & disease · 2026Article
- Impact of Perforin 1 A91V germ line background in patients with aggressive B-NHL treated with R-CHOP.Blood advances · 2026Article
- Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel HomozygousCase reports in immunology · 2026Article
- Autophagy activation by the Becn1Brain, behavior, and immunity · 2026Article
- Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico.Frontiers in immunology · 2026Article
- Clinical, biological and cytometric characteristics of two patients with a homozygous A91VClinical & translational immunology · 2026Article
- Case Report: Munc13-4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing.Frontiers in immunology · 2026Article
- Article
- Effect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis.Bone marrow transplantation · 2025Article
- Proteomic Analyses in COVID-19-Associated Secondary Hemophagocytic Lymphohistiocytosis.Critical care explorations · 2025Observational
- The performance of sCD25 and CTLs degranulation test for screening patients with primary hemophagocytic lymphohistiocytosis: a large-scale multicenter study in China.Frontiers in immunology · 2025Article
- The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin-Deficient Mice.European journal of immunology · 2025Article
- Article
- Hemophagocytic lymphohistiocytosis: current treatment advances, emerging targeted therapy and underlying mechanisms.Journal of hematology & oncology · 2024Review
- Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.Blood · 2024Article
- Identification of biomarkers for COVID-19 associated secondary hemophagocytic lymphohistiocytosis.bioRxiv : the preprint server for biology · 2024Article
129 more citing papers are in PubMed but not listed here.
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16 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rapid intracellular transport and secretion of cytotoxic granules through the immunological synapse requires a balanced interaction of several proteins. Disturbance of this highly regulated process underlies familial hemophagocytic lymphohistiocytosis (FHL), a genetically heterogeneous autosomal-recessive disorder characterized by a severe hyperinflammatory phenotype. Here, we have assigned FHL-5 to a 1 Mb region on chromosome 19p by using high-resolution SNP genotyping in eight unrelated FHL patients from consanguineous families. Subsequently, we found nine different mutations, either truncating or missense, in STXBP2 in twelve patients from Turkey, Saudi Arabia, and Central Europe. STXBP2 encodes syntaxin binding protein 2 (Munc18-2), involved in the regulation of vesicle transport to the plasma membrane. We have identified syntaxin 11, a SNARE protein mutated in FHL-4, as an interaction partner of STXBP2. This interaction is eliminated by the missense mutations found in our FHL-5 patients, which leads to a decreased stability of both proteins, as shown in patient lymphocytes. Activity of natural killer and cytotoxic T cells was markedly reduced or absent, as determined by CD107 degranulation. Our findings thus identify a key role for STXBP2 in lytic granule exocytosis.
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