2017
Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late‐onset primary isolated central nervous system hemophagocytic lymphohistiocytosis
Khazal S, Polishchuk V, Soffer G, Prinzing S, Gill J, Mahadeo KM. Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late‐onset primary isolated central nervous system hemophagocytic lymphohistiocytosis. Pediatric Transplantation 2017, 22 PMID: 29239076, DOI: 10.1111/petr.13101.Peer-Reviewed Original ResearchConceptsCNS-HLHDurable remissionsReduced-intensity conditioning regimenHematopoietic stem cell transplantationActive CNS diseaseLate-onset primaryStem cell transplantationAllogeneic HSCTCNS presentationsComorbidity indexConditioning regimenDisease remissionPrompt treatmentHemophagocytic lymphohistiocytosisSignificant morbidityPoor outcomeCell transplantationCNS diseaseAdolescent patientsPRF1 mutationsEarly diagnosisHigh indexRare diseaseRemissionImproved cure
2007
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
Trizzino A, Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter J, Griffiths G, Santoro A, Filipovich A, Aricò M, group F. Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. Journal Of Medical Genetics 2007, 45: 15. PMID: 17873118, DOI: 10.1136/jmg.2007.052670.Peer-Reviewed Original ResearchConceptsNatural killer activityAssociated with younger ageGenotype-phenotype analysisPerforin expressionNK activityPRF1 mutationsCytotoxic functionHistiocyte SocietyJapanese patientsGene mutationsIn-frame deletionKiller activityNonsense mutationFlow cytometryPatientsMissense mutationsG-->AType 2Younger ageMutationsPRF1MissenseNonsenseAgeData pooling
2006
MUNC13–4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis Are Scattered over the Functional Domains of the Protein.
Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, Dieli F, Bruno G, Stinchcombe J, Putti C, De Fusco C, Danesino C, Moretta L, Notarangelo L, Griffiths G, Aricò M. MUNC13–4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis Are Scattered over the Functional Domains of the Protein. Blood 2006, 108: 1249. DOI: 10.1182/blood.v108.11.1249.1249.Peer-Reviewed Original ResearchProtein functional domainsFunctional domainsHemophagocytic lymphohistiocytosisProximal flanking regionsFamilial form of hemophagocytic lymphohistiocytosisInduce alternative splicingDifferential diagnosis of childrenMunc13-4 geneDocked granulesFlanking regionAlternative splicingCoding regionStop codonMunc13FHL-2Diagnosis of childrenMissense mutationsPathogenic mutationsAbstract MutationsMunc13-4 proteinUnrelated familiesHomozygous parentsNK cellsCycle sequencingPRF1 mutationsNovel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, Dieli F, Bruno G, Stinchcombe J, Micalizzi C, De Fusco C, Danesino C, Moretta L, Notarangelo L, Griffiths G, Aricò M. Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. Journal Of Medical Genetics 2006, 43: 953. PMID: 16825436, PMCID: PMC2563207, DOI: 10.1136/jmg.2006.041863.Peer-Reviewed Original ResearchConceptsFamilial haemophagocytic lymphohistiocytosisMunc13-4 geneHaemophagocytic lymphohistiocytosisPRF1 mutationsDifferential diagnosis of young adultsMedian age of diagnosisActivity of natural killer cellsHaematopoietic stem-cell transplantationInvolvement of central nervous systemStem-cell transplantationNatural killer cellsGenetically heterogeneous disorderYoung adult patientsAge of diagnosisIdentification of carriersYears of ageCentral nervous systemStop codonGenetic markersChemo-ImmunotherapyMunc13Young adultsFamily donorsMedian ageKiller cells
2005
Novel Munc13-4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis.
Santoro A, Cannella S, Trizzino A, Danesino C, Pende D, De Fusco C, Micalizzi C, Bertolini P, Moretta L, Notarangelo L, Griffiths G, Aricò M. Novel Munc13-4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis. Blood 2005, 106: 2807. DOI: 10.1182/blood.v106.11.2807.2807.Peer-Reviewed Original ResearchFamilial hemophagocytic lymphohistiocytosisPRF1 mutationsHemophagocytic lymphohistiocytosisNatural killerGenetic defectsProximal flanking regionsMunc13-4 geneSequences of primersDetect mutated allelesReduced natural killerIdentification of carriersFlow cytometric toolsExon 31Gene sequencesFlanking regionMunc13-4Sequencing approachGenomic DNACytotoxic lymphocytesAmplification productsHeterozygous mutationsCellular cytotoxicityCoding exonsTherapeutic choiceMutation clusters
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