2013
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
Jessen B, Bode S, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl W, Gochuico B, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford A, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu G, Zieger B, Stadt U, Aichele P, Ehl S. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood 2013, 121: 2943-2951. PMID: 23403622, PMCID: PMC3624940, DOI: 10.1182/blood-2012-10-463166.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Protein Complex 3Adaptor Protein Complex beta SubunitsAdolescentAdultAnimalsChildChild, PreschoolCytotoxicity, ImmunologicFlow CytometryHermanski-Pudlak SyndromeHumansLymphohistiocytosis, HemophagocyticMiceMice, Inbred C57BLMice, KnockoutMutationrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsRisk FactorsT-Lymphocytes, CytotoxicYoung AdultConceptsHermansky-Pudlak syndrome type 2Hemophagocytic lymphohistiocytosisLymphocyte cytotoxicityHPS2 patientsRAB27A mutationsPatients to hemophagocytic lymphohistiocytosisRisk of hemophagocytic lymphohistiocytosisFeatures of hemophagocytic lymphohistiocytosisHematopoietic stem cell transplantationHermansky-PudlakImpaired virus controlPerforin-deficient miceStem cell transplantationType 2Lymphocytic choriomeningitis virusCytotoxicity in vivoChediak-Higashi syndromeCytotoxicity defectsCell transplantationPatient yearsPearl micePatientsGenetic disordersMilder defectsDisease parameters
2000
Analysis of the Lysosomal Storage Disease Chediak–Higashi Syndrome
Ward D, Griffiths G, Stinchcombe J, Kaplan J. Analysis of the Lysosomal Storage Disease Chediak–Higashi Syndrome. Traffic 2000, 1: 816-822. PMID: 11208072, DOI: 10.1034/j.1600-0854.2000.011102.x.Peer-Reviewed Original ResearchConceptsChediak-Higashi syndromeChediak–Higashi syndrome genePositional cloning approachMutant cellsCloning approachCellular physiologyAutosomal recessive disorderRare autosomal recessive disorderAffected speciesMammalian speciesGenetic defectsGenesRecessive disorderSpeciesBeigeClinical featuresSyndromeMutationsMiceProteinPhysiologyCellsSecretory Lysosome Biogenesis in Cytotoxic T Lymphocytes from Normal and Chediak Higashi Syndrome Patients
Stinchcombe J, Page L, Griffiths G. Secretory Lysosome Biogenesis in Cytotoxic T Lymphocytes from Normal and Chediak Higashi Syndrome Patients. Traffic 2000, 1: 435-444. PMID: 11208129, DOI: 10.1034/j.1600-0854.2000.010508.x.Peer-Reviewed Original ResearchConceptsSecretory lysosomesLysosomal biogenesisMutant cellsChediak-Higashi syndromeCytotoxic T lymphocytesWild-typeEndocytic pathwayT lymphocytesChediak-Higashi syndrome patientsLytic proteinsBiogenesisDelivery of proteinsLysosome formationGenetic diseasesResting cellsTarget cellsLysosomesCytotoxic T lymphocyte clonesCell aggregatesTarget cell killingCell maturationResting T lymphocytesProteinCellsCell killing
1999
Enhanced interaction of HLA-DM with HLA-DR in enlarged vacuoles of hereditary and infectious lysosomal diseases.
Lem L, Riethof D, Scidmore-Carlson M, Griffiths G, Hackstadt T, Brodsky F. Enhanced interaction of HLA-DM with HLA-DR in enlarged vacuoles of hereditary and infectious lysosomal diseases. The Journal Of Immunology 1999, 162: 523-32. PMID: 9886429, DOI: 10.4049/jimmunol.162.1.523.Peer-Reviewed Original ResearchMeSH KeywordsAntigens, CDAntigens, Differentiation, B-LymphocyteB-LymphocytesCell LineChediak-Higashi SyndromeChlamydia trachomatisCoxiellaHeLa CellsHistocompatibility Antigens Class IIHLA-D AntigensHLA-DR AntigensHumansLysosomal Membrane ProteinsLysosomesMacromolecular SubstancesMembrane GlycoproteinsStaining and LabelingVacuolesConceptsHLA-DRClass II moleculesLysosomal marker LAMP-1HLA-DMII moleculesLysosome-like compartmentsPresentation to T cellsChediak-Higashi syndrome cellsLoading compartmentClass II MHC moleculesSteady-state levelsClass I MHC moleculesSurface class II moleculesDisease statesEndocytic pathwayCell surface class II moleculesChediak-Higashi syndromeLysosomal morphologyEnlarged vacuolesLysosomal biogenesisLAMP-1Immune deficiencyPresence of HLA-DMT cellsAg presentation
1998
L is for lytic granules: lysosomes that kill
Page L, Darmon A, Uellner R, Griffiths G. L is for lytic granules: lysosomes that kill. Biochimica Et Biophysica Acta 1998, 1401: 146-156. PMID: 9531970, DOI: 10.1016/s0167-4889(97)00138-9.Peer-Reviewed Original ResearchConceptsSecretory lysosomesSecretory granulesLytic granulesUnusual secretory pathwaySorting mechanismCalcium-mediated exocytosisSecretion of proteinsSorting signalHemopoietic lineagesSecretory pathwaySorting defectsSorting proteinsSecretory organellesSecretory systemRegulate secretionLytic proteinsProtein degradationSecretory cellsFibroblast lysosomesChediak-Higashi syndromeLysosomal hydrolasesLysosomesSecreted productsProteinGenetic mutations
1995
Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis.
Baetz K, Isaaz S, Griffiths G. Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis. The Journal Of Immunology 1995, 154: 6122-31. PMID: 7751653, DOI: 10.4049/jimmunol.154.11.6122.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceChediak-Higashi SyndromeClone CellsCytoplasmic GranulesCytotoxicity Tests, ImmunologicExocytosisGlycoside HydrolasesGranzymesHumansImmune SeraImmunoblottingMicroscopy, FluorescenceMolecular Sequence DataReceptors, Antigen, T-CellSerine EndopeptidasesT-Lymphocytes, CytotoxicConceptsMannose-6-phosphate receptorChediak-Higashi syndromeLytic granulesCTL clonesLytic granule exocytosisAmount of killingSecrete granzyme AMannose-6-phosphateLysosomal enzyme cathepsin DGranzyme APresence of cycloheximideGranule exocytosisSynthesized proteinsEnzyme cathepsin DMembrane fusionCD8+ CTL clonesCytotoxic T lymphocyte functionLytic proteinsClonesLysosomal compartmentLoss of cytotoxicityT lymphocyte functionIndividual CTL clonesSecretory defectDestroy target cells
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