HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
AlteredExpression
|
disease |
BEFREE |
The data demonstrate that the established protocol can be applied to FHL-3 patient cells with various genetic backgrounds and that gamma-retroviral <i>UNC13D</i> transfer restored expression of functional Munc13-4, as well as degranulation capacity and cell-mediated cytotoxicity of those patient-derived CD8<sup>+</sup> T cells.
|
31032638 |
2019 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
AlteredExpression
|
disease |
BEFREE |
To further elucidate whether munc13-4 expression analysis can reliably identify FHL3 patients harboring missense mutations in <i>UNC13D</i>, we developed an alloantigen-specific cytotoxic T lymphocyte (CTL) line and a CTL line immortalized by <i>Herpesvirus saimiri</i> derived from FHL3 patients.
|
29549174 |
2018 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
|
26342526 |
2016 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea.
|
25553300 |
2015 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).
|
25573973 |
2015 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.
|
24935083 |
2015 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
|
24139496 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
GeneticVariation
|
disease |
BEFREE |
This case illustrates an atypical compound heterozygous UNC13D mutation affecting the RNA splicing that generates a typical FHL3 phenotype.
|
24825797 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
|
24470399 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.
|
24825797 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.
|
24842371 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.
|
23669735 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
GeneticVariation
|
disease |
CLINVAR |
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
|
23180437 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
|
23180437 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
GeneticVariation
|
disease |
BEFREE |
The study patients were 72 children with HLH including those with FHL3 previously reported to have a monoallelic UNC13D mutation.
|
23180437 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
|
21674762 |
2012 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.
|
21755595 |
2012 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
|
21931115 |
2011 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
|
21248318 |
2011 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
|
21152410 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
|
20823128 |
2010 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.
|
19704116 |
2009 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
GeneticVariation
|
disease |
BEFREE |
Mutations of UNC13D have been described in patients affected by familial hemophagocytic lymphohistiocytosis (FHL3).
|
18492689 |
2008 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
CausalMutation
|
disease |
CLINVAR |
Single gene disorders.
|
19484379 |
2008 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
0.860 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
|
17993578 |
2008 |