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showing 10 items of 953 documents

The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70.

2017

International audience; Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype. In at least 70% of cases, DBA is related to a haploinsufficient germ line mutation in a ribosomal protein (RP) gene. Additional cases have been associated with mutations in GATA1. We have previously established that the RPL11+/Mut phenotype is more severe than RPS19+/Mut phenotype because of delayed erythroid differentiation and increased apoptosis of RPL11+/Mut erythroid progenitors. The HSP70 protein is known to protect GATA1, the major erythroid transcription factor, from caspase-3 mediated cleavage during normal erythroid differentiation.…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesIdentificationApoptosis-Inducing FactorGata1 MutationsInhibits ApoptosisBiologyHsp7003 medical and health sciencesGermline mutationRed Cells Iron and Erythropoiesishemic and lymphatic diseasesmedicine[ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/HematologyNuclear ImportErythropoiesisDiamond–Blackfan anemiaHuman ErythroblastsBone marrow failure[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyGATA1Hematologymedicine.diseasePhenotypeMolecular biology3. Good healthHsp70030104 developmental biologyRibosomal-ProteinsProtein Gene DeletionsErythropoiesisHaploinsufficiencyBlood advances
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Vγ9Vδ2 T Cells in the Bone Marrow of Myeloma Patients: A Paradigm of Microenvironment-Induced Immune Suppression

2018

Vγ9Vδ2 T cells are non-conventional T cells with a natural inclination to recognize and kill cancer cells. Malignant B cells, including myeloma cells, are privileged targets of Vγ9Vδ2 T cells in vitro. However, this inclination is often lost in vivo due to multiple mechanisms mediated by tumor cells and local microenvironment. Multiple myeloma (MM) is a paradigm disease in which antitumor immunity is selectively impaired at the tumor site. By interrogating the immune reactivity of bone marrow (BM) Vγ9Vδ2 T cells to phosphoantigens, we have revealed a very early and long-lasting impairment of Vγ9Vδ2 T-cell immune functions which is already detectable in monoclonal gammopathy of undetermined …

0301 basic medicinelcsh:Immunologic diseases. AllergyStromal cellbone marrowMini ReviewImmunologyVγ9Vδ2 T cells immune checkpoints multiple myeloma immune suppression bone marrow03 medical and health sciences0302 clinical medicineImmune systemAutologous stem-cell transplantationmedicineImmunology and AllergyMultiple myelomabusiness.industryimmune checkpointsmedicine.diseaseVγ9Vδ2 T cellsIn vitromultiple myeloma030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisCancer cellCancer researchBone marrowimmune suppressionbusinesslcsh:RC581-607Monoclonal gammopathy of undetermined significanceFrontiers in Immunology
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The Ontogeny of Monocyte Subsets

2019

Classical and non-classical monocytes, and the macrophages and monocyte-derived dendritic cells they produce, play key roles in host defense against pathogens, immune regulation, tissue repair and many other processes throughout the body. Recent studies have revealed previously unappreciated heterogeneity among monocytes that may explain this functional diversity, but our understanding of mechanisms controlling the functional programming of distinct monocyte subsets remains incomplete. Resolving monocyte heterogeneity and understanding how their functional identity is determined holds great promise for therapeutic immune modulation. In this review, we examine how monocyte origins and develo…

0301 basic medicinelcsh:Immunologic diseases. Allergybone marrowOntogenyMini ReviewImmunologyInflammationDiseaseBiologyMonocytes03 medical and health sciences0302 clinical medicinemonocyte subsetsmedicineImmunology and AllergyAnimalsHumansEpigeneticsProgenitor cellInflammationMonocytemonopoiesisMacrophagesDendritic CellsPhenotype3. Good health030104 developmental biologymedicine.anatomical_structureGene Ontologymonocyte progenitorsmedicine.symptomlcsh:RC581-607Neurosciencemonocyte ontogenyHomeostasis030215 immunologyFrontiers in Immunology
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Gamma-Delta CAR-T Cells Show CAR-Directed and Independent Activity Against Leukemia

2020

Autologous T cells engineered to express a chimeric antigen receptor (CAR) against the CD19 antigen are in the frontline of contemporary hemato-oncology therapies, leading to high remission rates in B-cell malignancies. Although effective, major obstacles involve the complex and costly individualized manufacturing process, and CD19 target antigen loss or modulation leading to resistant and relapse following CAR therapy. A potential solution for these limitations is the use of donor-derived γδT cells as a CAR backbone. γδT cells lack allogenecity and are safely used in haploidentical transplants. Moreover, γδT cells are known to mediate natural anti-tumor responses. Here, we describe a 14-da…

0301 basic medicinelcsh:Immunologic diseases. Allergymedicine.medical_treatmentImmunologyCell Culture TechniquesPriming (immunology)Mice SCIDImmunotherapy AdoptiveCD1903 medical and health sciencesMice0302 clinical medicineAntigenMice Inbred NODTransduction GeneticmedicineAnimalsHumansImmunology and Allergyimmuno oncologyB cell malignanciesOriginal ResearchLeukemiaReceptors Chimeric Antigenbiologychimeric antigen receptorChemistrygamma-delta T cellsReceptors Antigen T-Cell gamma-deltamedicine.diseaseXenograft Model Antitumor AssaysChimeric antigen receptorLeukemia030104 developmental biologyCytokinemedicine.anatomical_structureCell cultureCancer researchbiology.proteinBone marrowlcsh:RC581-607Genetic Engineering030215 immunologyFrontiers in Immunology
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Non-Coding RNAs in Multiple Myeloma Bone Disease Pathophysiology

2020

Bone remodeling is uncoupled in the multiple myeloma (MM) bone marrow niche, resulting in enhanced osteoclastogenesis responsible of MM-related bone disease (MMBD). Several studies have disclosed the mechanisms underlying increased osteoclast formation and activity triggered by the various cellular components of the MM bone marrow microenvironment, leading to the identification of novel targets for therapeutic intervention. In this regard, recent attention has been given to non-coding RNA (ncRNA) molecules, that finely tune gene expression programs involved in bone homeostasis both in physiological and pathological settings. In this review, we will analyze major signaling pathways involved …

0301 basic medicinelcsh:QH426-470Bone diseasenon-coding RNAReviewBiologyBiochemistryBone remodeling03 medical and health sciences0302 clinical medicineOsteoclastmicroRNAGeneticsmedicinetumor microenvironmentMolecular BiologyMultiple myelomamiRNAlong non-coding RNAmedicine.diseaseNon-coding RNALong non-coding RNAmultiple myelomalcsh:Genetics030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisCancer researchbone diseaseBone marrowNon-Coding RNA
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Macrophage protease-activated receptor 2 regulates fetal liver erythropoiesis in mice.

2020

AbstractDeficiencies in many coagulation factors and protease-activated receptors (PARs) affect embryonic development. We describe a defect in definitive erythropoiesis in PAR2-deficient mice. Embryonic PAR2 deficiency increases embryonic death associated with variably severe anemia in comparison with PAR2-expressing embryos. PAR2-deficient fetal livers display reduced macrophage densities, erythroblastic island areas, and messenger RNA expression levels of markers for erythropoiesis and macrophages. Coagulation factor synthesis in the liver coincides with expanding fetal liver hematopoiesis during midgestation, and embryonic factor VII (FVII) deficiency impairs liver macrophage development…

0301 basic medicinemedicine.medical_specialtyBiologyThrombosis and Hemostasis03 medical and health sciencesMice0302 clinical medicineHepcidinInternal medicinemedicineMacrophageAnimalsReceptor PAR-2ErythropoiesisProtease-activated receptor 2Mice KnockoutFetusMacrophagesHematologymedicine.diseaseHemolysisHaematopoiesis030104 developmental biologyEndocrinologymedicine.anatomical_structureLiver030220 oncology & carcinogenesisbiology.proteinErythropoiesisBone marrowBlood advances
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Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

2018

Abstract Background Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves. Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral disease, to less rapidly progressing chronic neurovisceral and visceral forms that are associated with significant morbidity and shorter life span due to respiratory or liver disease. Objectives To provide a contemporary guide of clinical assessments for di…

0301 basic medicinemedicine.medical_specialtyEndocrinology Diabetes and MetabolismDisease030105 genetics & heredityBiochemistryArticle03 medical and health sciencesLiver disease0302 clinical medicineEndocrinologyQuality of lifeInternal medicineGeneticsmedicineLysosomal storage diseaseHumansEnzyme Replacement TherapyMolecular BiologyMonitoring PhysiologicPatient monitoringClinical Trials as TopicAcid sphingomyelinase deficiencyASMDLungbusiness.industryDisease ManagementEnzyme replacement therapyNiemann-Pick Disease Type Amedicine.diseasePhenotypemedicine.anatomical_structureMutationPractice Guidelines as TopicQuality of LifeBone marrowAcid sphingomyelinasebusinessRisk Reduction Behavior030217 neurology & neurosurgerymedicine.drugMolecular Genetics and Metabolism
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Mastocytosis - pathogenesis, clinical manifestation and treatment

2017

The term mastocytosis designates a group of rare disorders characterized by typical skin lesions, frequently associated episodes of anaphylaxis, and clinical symptoms related to the release of various mediators. Dermatologists/allergists are frequently the first to establish the diagnosis. The condition is based on clonal mast cell proliferation, usually in the skin or bone marrow and only rarely in the gastrointestinal tract or other tissues. In general, mastocytosis has a good prognosis in terms of life expectancy. Rare variants - including mast cell leukemia, aggressive mastocytosis, and the exceedingly rare mast cell sarcoma - require cytoreductive therapy. In cases associated with hema…

0301 basic medicinemedicine.medical_specialtyGastrointestinal tractbusiness.industryDermatologymedicine.diseaseMast cell leukemiaDermatologyMast cell proliferation03 medical and health sciences030104 developmental biologymedicine.anatomical_structuremedicineMast cell sarcomaHematological neoplasmAllergistsBone marrowbusinessAnaphylaxisJDDG: Journal der Deutschen Dermatologischen Gesellschaft
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Myeloma-Induced Alterations of Glutamine Metabolism Impair Bone Microenvironment Niche in Multiple Myeloma Patients

2018

Abstract Multiple myeloma (MM) cells are characterized by tight dependence on the bone marrow (BM) microenvironment that exerts a permissive role on cell growth and survival. In turn, MM cells markedly modify their microenvironment leading, in particular, to the development of osteolytic bone lesions. Recently, we demonstrated that metabolic alterations is a major feature of MM cells showing that BM plasma of MM patients is characterized by lower levels of Glutamine (Gln) and higher levels of Glutamate (Glu) and ammonium when compared with patients with smoldering MM (SMM) and Monoclonal Gammopathy of Uncertain Significance (MGUS). In the majority of MM patients MM cells are Gln-addicted si…

0301 basic medicinemedicine.medical_specialtyStromal cellBone diseaseChemistryImmunologyCell BiologyHematologymedicine.disease030226 pharmacology & pharmacyBiochemistryGlutamine03 medical and health sciences030104 developmental biology0302 clinical medicineEndocrinologymedicine.anatomical_structureCell cultureGlutamine synthetaseInternal medicineBone cellmedicineBone marrowMonoclonal gammopathy of undetermined significanceBlood
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Immunoistochemical expression of PD-1 and PD-L1 in bone marrow biopsies of patients with acute myeloid leukemia

2020

Background. Haematological and non-haematological malignancies are able to escape the host immune by the capacity to hijack the immune check-points. Several immune check-point molecules are known, such as T cell immunoglobulin mucin-3 (TIM-3), cytotoxic T-cell antigen-4 (CTLA-4), programmed death-1 (PD-1) with its ligand PD-L1 and others.1 The function of these immune check-points is to prevent the damage resulting from an excessive activation of the immune response in the setting of chronic antigenic stimulation, thus leading to autoimmune phenomena, as proved in knock-out mice models. PD-1 is normally present on activated T lymphocytes membrane, acting as a negative costimulatory receptor…

0301 basic medicinemedicine.medical_treatmentvirusesanimal diseaseschemical and pharmacologic phenomena03 medical and health sciences0302 clinical medicinePD-L1Medicinebiologybusiness.industrylcsh:RC633-647.5Myeloid leukemiaHematologyImmunotherapylcsh:Diseases of the blood and blood-forming organsAcute myeloid leukemia Immune check-point blockade Immunotherapy PD-1 PD-L1biochemical phenomena metabolism and nutritionacute myeloid leukemia; immune check-point blockade; PD-1; PD-L1; immunotherapy030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisCancer researchbiology.proteinbacteriaBone marrowbusinessHematology Reports
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