Condition: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3


rs121434352 in UNC13D gene and HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 PMID 16278825 2006 Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

PMID 21674762 2012 Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

PMID 14622600 2003 Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

PMID 24470399 2014 The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

PMID 21152410 2010 Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.

PMID 17993578 2008 Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

PMID 23180437 2013 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.

PMID 23669735 2014 Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.

PMID 18492689 2008 Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.

PMID 24825797 2014 Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.

PMID 21248318 2011 Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

PMID 16825436 2006 Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

PMID 25573973 2015 First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).

PMID 19484379 2008 Single gene disorders.

PMID 20823128 2010 Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.

PMID 26342526 2016 Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.

PMID 21755595 2012 A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

PMID 24139496 2014 Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

PMID 19704116 2009 Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.

PMID 24935083 2015 Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.

PMID 24842371 2014 Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.

PMID 25553300 2015 First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea.

PMID 21931115 2011 Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.