Search results for "Bone marrow failure"

showing 4 items of 14 documents

Bone marrow failure by cytomegalovirus is associated with an in vivo deficiency in the expression of essential stromal hemopoietin genes.

1997

Bone marrow (BM) failure associated with cytomegalovirus (CMV) infection is a feared complication after clinical BM transplantation. Experiments in long-term BM cultures have indicated that BM stromal cells (BMSC) are targets of productive CMV infection, but an in situ infection of BM stroma remained to be documented, and the pathomechanism is open to question. Here we describe a murine in vivo model of lethal CMV aplastic anemia (CMV-AA). The reconstitution of hematopoietic progenitor cells expressing stem cell factor (SCF) receptor was found to be defective in CMV-AA. While murine CMV replication in permissive parenchymal tissues is cytolytic, the hematopoietic cord was found to be a site…

MaleStromal cellImmunologyGene ExpressionStem cell factorBiologyHematopoietic Cell Growth FactorsMicrobiologyMiceBone MarrowVirologyGranulocyte Colony-Stimulating FactormedicineAnimalsRNA MessengerAplastic anemiaMice Inbred BALB CStem Cell FactorInterleukin-6Hematopoietic Cell Growth FactorsBone marrow failureAnemia Aplasticmedicine.diseaseHematopoiesisTransplantationHaematopoiesisProto-Oncogene Proteins c-kitmedicine.anatomical_structureInsect ScienceImmunologyCytomegalovirus InfectionsFemaleBone marrowResearch Article
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Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry.

2019

Autoimmune neutropenia of infancy (AIN) is characterized by low risk of severe infection, tendency to spontaneously resolve and typically onset at ≤4-5 years of age; it is due to auto-antibodies whose detection is often difficult. In case of negativity of 4 antineutrophils autoantibody tests, after having excluded ethnic, postinfection, drug induced, or congenital neutropenia, according to the Italian guidelines the patients will be defined as affected by "idiopathic neutropenia" (IN). We describe the characteristics of 85 IN patients enrolled in the Italian neutropenia registry: they were compared with 336 children affected by AIN. The 2 groups were clinically very similar and the main dif…

Malemedicine.medical_specialtyNeutropeniaAutoimmunityNeutropeniaDiagnosis Differential03 medical and health sciences0302 clinical medicineSex FactorsMonocytosisRisk FactorsInternal medicineDiagnosismedicineCongenital Bone Marrow Failure SyndromesHumansRegistriesCongenital NeutropeniaHematologyLeukopeniabusiness.industryAge Factors; Autoimmunity; Congenital Bone Marrow Failure Syndromes; Diagnosis Differential; Female; Humans; Infant; Italy; Leukopenia; Male; Neutropenia; Registries; Risk Factors; Sex FactorsAutoantibodyAge FactorsInfantHematologyLeukopeniamedicine.diseaseSettore MED/38Italy030220 oncology & carcinogenesisAutoimmune neutropeniaDifferentialFemalemedicine.symptomDifferential diagnosisbusiness030215 immunologyAmerican journal of hematology
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HSP27: A Therapeutic Target in Myelofibrosis

2016

Abstract Myelofibrosis (MF) is the most aggressive myeloproliferative neoplasms (MPN) with the highest degree of morbidity and mortality, including progressive bone marrow fibrosis resulting into bone marrow failure. JAK2 kinase inhibitors have been successfully used for a few years in MPN and more particularly for MF treatment. Despite their beneficial effects on spleen size and symptoms, JAK2 inhibitors induce low molecular and survival responses underscoring the urgent need for other therapeutic approaches. Recently, heat shock protein 90 (HSP90) - known to stabilize JAK2 - has been reported as a promising therapeutic target in MPN. However HSP90 inhibitors show toxicity and induce the e…

White pulpImmunologyCD34Bone marrow failureCell BiologyHematologyBiologymedicine.diseaseBiochemistry03 medical and health sciencesLeukemia0302 clinical medicinemedicine.anatomical_structureMegakaryocyteFibrosis030220 oncology & carcinogenesisImmunologymedicineBone marrowMyelofibrosis030215 immunologyBlood
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Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

2022

Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome (MDS), which in turn increases the risk of acute myeloid leukemia (AML) from an early age. Most SDS patients are heterozygous for the c.183-184TA>CT (K62X) SBDS nonsense mutation. Fortunately, a plethora of translational read-through inducing drugs (TRIDs) have been developed and tested for several rare inherited diseases due to nonsense mutations so far. The authors previously demonstrated that ataluren (PTC124) can restore full-length SBDS…

neutropeniaMedicine (miscellaneous)atalurenbone marrow failure syndromes; ataluren; neutropeniabone marrow failure syndromesShwachman-Diamond SyndromeGeneral Biochemistry Genetics and Molecular BiologyBiomedicines
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