HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
|
20558610 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
|
24194549 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
|
20823128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
|
19884660 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
|
20798128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
|
19804848 |
2009 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We report an STXBP2 homozygous missense mutation c.1139A>G, p.(Gln380Arg) consistent with a genetic diagnosis of familial hemophagocytic lymphohistiocytosis type 5 associated with chronic diarrhea in a seven-year-old girl.
|
31807395 |
2019 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
|
20798128 |
2010 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Recent analysis of patients with familial hemophagocytic lymphohistiocytosis type 5 has identified the E132A mutation in the hydrophobic pocket of Munc18-2, prompting us to examine the role of this region in the context of immune cell secretion.
|
23487749 |
2013 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The second and third patients with homozygous splice site mutation (c.430-1G>A) in STXBP2 were siblings who presented at birth with fevers, elevated aspartate aminotransferase, alanine aminotransferase, and hyperferritinemia but did not fulfill FHL criteria.
|
31651726 |
2019 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To better characterize the genetic and clinical spectrum of FHL5, we analyzed a cohort of 185 patients with suspected FHL for mutations in STXBP2.
|
22451424 |
2012 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.
|
25491289 |
2015 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.
|
20558610 |
2010 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
|
19804848 |
2009 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we show that the gene encoding syntaxin-binding protein 2 (Munc18-2; official gene symbol STXBP2) is mutated in another subset of patients with FHL (designated by us as "FHL5").
|
19884660 |
2009 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
|
26451869 |
2016 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The Sec/Munc protein, Munc18-2, and its binding partner Syntaxin 11 (STX11) are both required for granule secretion, with mutations in either leading to the primary immunodeficiency, Familial Haemophagocytic Lymphohistiocytosis (FHL4 and 5).
|
26771955 |
2015 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
FHL mutation analysis of the patient and her parents revealed that she presented compound heterozygosity for STXBP2: a novel missense mutation c.663G > C (p.Glu221Asp) and the known pathogenic splice-site mutation c.1247-1G > C (p.Val417LeufsX126).
|
31651895 |
2019 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We analyzed disease manifestations, NK-cell and T-cell cytotoxicity and degranulation, markers of T-cell activation and B-cell differentiation as well as Natural Killer T cells in 8 patients with atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2.
|
20823128 |
2010 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare primary immune disorder defined by mutations in the syntaxin binding protein 2 (STXBP2) alias MUNC18-2.
|
23382066 |
2013 |
Lymphohistiocytosis, Hemophagocytic
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Then SNP rs2303116 of STXBP2 genotyping was performed by Sanger sequencing method on samples from 24 patients with HLH and 182 normal controls.
|
27513731 |
2016 |
Lymphohistiocytosis, Hemophagocytic
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
This unusual relationship directs toward a specific gene mutation of STXBP2 as the cause of chronic diarrhea in familial HLH.
|
31807395 |
2019 |
Lymphohistiocytosis, Hemophagocytic
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.
|
30782130 |
2019 |
Lymphohistiocytosis, Hemophagocytic
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Mutations in STXBP2 should thus also be considered in patients with clinical manifestations other than those typically associated with HLH.
|
20558610 |
2010 |
Lymphohistiocytosis, Hemophagocytic
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these results reveal a direct role for SEC/MUNC18 proteins in promoting SNARE-complex assembly in vivo and suggest that STXBP2 R65 mutations operate in a novel dominant-negative fashion to impair lytic granule fusion and contribute to HLH.
|
25564401 |
2015 |