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
about
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosisDefective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patientsHemophagocytic lymphohistiocytosis: review of etiologies and managementRegulation of vesicular trafficking and leukocyte function by Rab27 GTPases and their effectorsHemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesisApplication of Flow Cytometry in the Evaluation of Primary ImmunodeficienciesJinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosisCytotoxicity of CD56(bright) NK cells towards autologous activated CD4+ T cells is mediated through NKG2D, LFA-1 and TRAIL and dampened via CD94/NKG2AGenotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3Risk factors for early death in children with haemophagocytic lymphohistiocytosis.Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association studySTXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5Munc13-4 is a limiting factor in the pathway required for platelet granule release and hemostasis.Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosisAtypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesFamilial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysisVariations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.Identification of Mouse Cytomegalovirus Resistance Loci by ENU Mutagenesis.Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion.The diagnosis of adult-onset haemophagocytic lymphohistiocytosis: lessons learned from a review of 29 cases of bone marrow haemophagocytosis in two large academic institutions.Laboratory evaluation of primary immunodeficienciesMyosin IIA is required for cytolytic granule exocytosis in human NK cells.Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.Human NK cell lytic granules and regulation of their exocytosisGenetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryMUNC13-4 protein regulates the oxidative response and is essential for phagosomal maturation and bacterial killing in neutrophils.Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.Line of attack: NK cell specificity and integration of signals.Isopentenyl pyrophosphate-activated CD56+ {gamma}{delta} T lymphocytes display potent antitumor activity toward human squamous cell carcinoma.Dissecting innate immunity by germline mutagenesis.A Modified NK Cell Degranulation Assay Applicable for Routine Evaluation of NK Cell Function.Functional analysis of human NK cells by flow cytometry.The killer's kiss: the many functions of NK cell immunological synapses.Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors.Signal transduction during activation and inhibition of natural killer cells.
P2860
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P2860
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
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Analysis of natural killer-cel ...... enetic subtypes of the disease
@ast
Analysis of natural killer-cel ...... enetic subtypes of the disease
@en
Analysis of natural killer-cel ...... enetic subtypes of the disease
@nl
type
label
Analysis of natural killer-cel ...... enetic subtypes of the disease
@ast
Analysis of natural killer-cel ...... enetic subtypes of the disease
@en
Analysis of natural killer-cel ...... enetic subtypes of the disease
@nl
prefLabel
Analysis of natural killer-cel ...... enetic subtypes of the disease
@ast
Analysis of natural killer-cel ...... enetic subtypes of the disease
@en
Analysis of natural killer-cel ...... enetic subtypes of the disease
@nl
P2093
P3181
P1433
P1476
Analysis of natural killer-cel ...... enetic subtypes of the disease
@en
P2093
Alessandra Santoro
Daniela Pende
Federico Gallo
Lorenzo Moretta
Maurizio Aricó
Stefania Martini
P304
P3181
P356
10.1182/BLOOD-2006-04-015693
P407
P577
2006-10-01T00:00:00Z