Familial Hemophagocytic Lymphocytosis
|
0.500 |
GermlineCausalMutation
|
phenotype |
ORPHANET |
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
|
11179007 |
2001 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
|
19884660 |
2009 |
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 |
CausalMutation
|
phenotype |
CLINVAR |
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 |
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
|
20798128 |
2010 |
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 |
CausalMutation
|
phenotype |
CLINVAR |
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
|
20823128 |
2010 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
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 |
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 |
Biomarker
|
phenotype |
BEFREE |
Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) is caused by defects in the Munc18b/STXBP2 gene.
|
22791290 |
2012 |
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 |
CausalMutation
|
phenotype |
CLINVAR |
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
|
22451424 |
2012 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Recently mutation in STXBP2 encoding syntaxin binding protein 2 (Munc 18 -2) has been found to be associated with FHL type 5.
|
22796692 |
2012 |
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 |
Biomarker
|
phenotype |
BEFREE |
A role for STXBP2 in neutrophils, and for neutrophils in FHL in general, has not been documented thus far.
|
23687090 |
2013 |
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 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Mutations in either syntaxin 11 (Stx11) or Munc18-2 abolish cytotoxic T lymphocytes (CTL) and natural killer cell (NK) cytotoxicity, and give rise to familial hemophagocytic lymphohistiocytosis (FHL4 or FHL5, respectively).
|
24194549 |
2013 |
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 |
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 |
Biomarker
|
phenotype |
BEFREE |
In the majority of cases, these disorders are caused by biallelic inactivating germline mutations in genes such as RAB27A (GS) and PRF1, UNC13D, STX11, and STXBP2 (F-HLH).
|
25564401 |
2015 |
Familial Hemophagocytic Lymphocytosis
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
|
26320718 |
2015 |
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 |
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 |
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 |