|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The authors exploited a founder effect of an UNC13D inversion, which abolishes Munc13-4 expression and causes hemophagocytic lymphohistiocytosis in an autosomal recessive manner.
|
30758854 |
2019 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygosity in the UNC13D gene was identified in trans and considered a causative mutation in a female patient with HLH.
|
29783935 |
2018 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the present study, we used exome sequencing to analyze PRF1, UNC13D, STX11, and STXBP2, as well as genes associated with primary immunodeficiency disease (RAB27A, LYST, AP3B1, SH2D1A, ITK, CD27, XIAP, and MAGT1) in Thai children with hemophagocytic lymphohistiocytosis (HLH).
|
28353193 |
2017 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two compound heterozygous splicing mutations in UNC13D gene were identified and considered to be potential pathogenesis in a female patient of HLH.
|
29157204 |
2017 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the HLH group, there were only three cases identified with the UNC13D gene mutation responsible for the FHLH3 phenotype.
|
26987330 |
2016 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study showed the unique predominance of a UNC13D mutation and vulnerability to Epstein-Barr virus infection in Korean children with HLH and emphasizes the prognostic significance of age, liver dysfunction, and treatment responses in this disease.
|
24935083 |
2015 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
|
25980904 |
2015 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We performed DNA sequencing of UNC13D and targeted analysis of these three mutations in 1,709 North American patients with a suspected clinical diagnosis of hemophagocytic lymphohistiocytosis (HLH).
|
24470399 |
2014 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis.
|
23709445 |
2013 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
|
21881043 |
2011 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hemophagocytic lymphohistiocytosis with Munc13-4 mutation: a cause of recurrent fatal hydrops fetalis.
|
21646258 |
2011 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia.
|
21370424 |
2011 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11.
|
18421721 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The biallelic sequence variants in MUNC13-4 reported in familial HLH were present in 2 of the 18 patients with JIA/macrophage activation syndrome.
|
18759271 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether single-nucleotide polymorphisms (SNPs) within the genes PRF1, GZMB, UNC13D, and Rab27a, which are involved in natural killer cell dysfunction and known to contribute to the risk of hemophagocytic lymphohistiocytosis (HLH), confer an increased risk of susceptibility to systemic-onset juvenile idiopathic arthritis (JIA).
|
18311812 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
|
18492689 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial forms of HLH have been attributed to mutations in the genes encoding perforin (PRF1) and Munc13-4 (UNC13D), among others, and are characterized by defective cytotoxic lymphocyte function.
|
18240215 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
Biomarker
|
disease |
LHGDN |
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis.
|
18311812 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children.
|
19131769 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports.
|
18432499 |
2008 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
AlteredExpression
|
disease |
LHGDN |
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
|
16778144 |
2006 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
|
16278825 |
2006 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the Munc13-4 gene in all patients with haemophagocytic lymphohistiocytosis not due to PRF1 mutations.
|
16825436 |
2006 |
|
Lymphohistiocytosis, Hemophagocytic
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
|
14622600 |
2003 |