Search results for "IMMUNODEFICIENCY"

showing 10 items of 366 documents

Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

2020

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…

0301 basic medicineMaleNF-KAPPA-BMedizinlnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Fluorescent Antibody TechniqueAutoimmunityDiseaseNUCLEAR-FACTORKaplan-Meier Estimatemedicine.disease_causeHypogammaglobulinemia0302 clinical medicineNFKB1 variants and mutations; autosomal dominant inheritance; common variable immunodeficiency; reduced penetrance; variable expressivityHDE PEDImmunology and Allergyvariants and mutationsNF-κB1-related phenotypeImmunodeficiencyIMMUNODEFICIENCY*NF-?B1-related phenotypeNFKB1 variants and mutations1184 Genetics developmental biology physiologycommon variable immunodeficiencyDisease ManagementMiddle AgedNF-kappa B1-related phenotypereduced penetrancePrognosisPenetranceImmunohistochemistryMagnetic Resonance Imaging3. Good healthPhenotypeNFKB1 variant*NFKB1 variant*common variable immunodeficiencyFemaleHaploinsufficiency*reduced penetranceNFKB1 mutationAdultHeterozygote*NFKB1 mutationImmunologyHAPLOINSUFFICIENCYArticle03 medical and health sciencesvariable expressivityautosomal dominantmedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesAgedbusiness.industryCommon variable immunodeficiencyNF-kappa B p50 SubunitNF-KAPPA-B1Immune dysregulationmedicine.diseaseautosomal dominant inheritance030104 developmental biologyBiological Variation PopulationImmunologyCELLSMutation*autosomal dominantPrimary immunodeficiency3111 BiomedicinebusinessTomography X-Ray ComputedBiomarkers030215 immunology
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The burden and epidemiology of community-acquired central nervous system infections: a multinational study

2017

Ghaydaa, Shehata/0000-0002-3631-893X; Radic, Ljiljana Betica/0000-0002-8778-106X; Silva-Pinto, Andre/0000-0002-2077-3356; Cascio, Antonio/0000-0002-1992-1796; Bossi, Paolo/0000-0003-0135-0224; Stebel, Roman/0000-0001-6922-4465; Namani, Sadie/0000-0002-2411-8623; Chan, Phillip/0000-0002-4071-4409; Hargreaves, Sally/0000-0003-2974-4348; Artuk, Cumhur/0000-0003-0827-990X; Harxhi, Arjan/0000-0001-8518-7377; Larsen, Lykke/0000-0002-4113-4182; Uysal, Serhat/0000-0002-4294-5999 WOS: 000407582200010 PubMed: 28397100 Risk assessment of central nervous system (CNS) infection patients is of key importance in predicting likely pathogens. However, data are lacking on the epidemiology globally. We perfor…

0301 basic medicineMaleOutcome AssessmentAdverse Clinical Outcomemedicine.disease_causeCentral nervous system infections ; burden ; epidemiologyMedical microbiologyCentral Nervous System InfectionsOutcome Assessment Health CareEpidemiology80 and overAged 80 and overbiologyAge FactorsGeneral MedicineMiddle AgedCommunity-Acquired InfectionsInfectious Diseases[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyPopulation SurveillanceFemaleNeuroborreliosisHuman Immunodeficiency VirusMicrobiology (medical)Adultmedicine.medical_specialtyTuberculosisSettore MED/17 - Malattie Infettive030106 microbiologyBrain AbscessCentral Nervous System InfectionNeurosyphilisMycobacterium tuberculosis03 medical and health sciencesYoung AdultInternal medicineStreptococcus pneumoniaeJournal ArticlemedicineHumansAgedRetrospective Studiesbusiness.industryVaricella zoster virusmedicine.diseasebiology.organism_classificationHealth CareCross-Sectional StudiesCentral Nervous System DiseaseBrain AbsceHuman Immunodeficiency ViruImmunologybusiness
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Prevalence and Etiology of Community-acquired Pneumonia in Immunocompromised Patients

2018

Abstract Background The correct management of immunocompromised patients with pneumonia is debated. We evaluated the prevalence, risk factors, and characteristics of immunocompromised patients coming from the community with pneumonia. Methods We conducted a secondary analysis of an international, multicenter study enrolling adult patients coming from the community with pneumonia and hospitalized in 222 hospitals in 54 countries worldwide. Risk factors for immunocompromise included AIDS, aplastic anemia, asplenia, hematological cancer, chemotherapy, neutropenia, biological drug use, lung transplantation, chronic steroid use, and solid tumor. Results At least 1 risk factor for immunocompromis…

0301 basic medicineMalePediatricsEtiologyMultidrug-resistant pathogenMRSAPneumocystis pneumoniaPneumònia adquirida a la comunitatHOSPITALIZED-PATIENTS0302 clinical medicineCommunity-acquired pneumoniaRisk FactorsPrevalenceMedicine030212 general & internal medicinePNEUMOCYSTIS PNEUMONIAArticles and CommentariesAged 80 and overRespiratory tract infectionsAnemia AplasticMiddle Aged3. Good healthCommunity-Acquired InfectionsEuropeInfectious DiseasesImmunocompromise; Microbiology; MRSA; Multidrug-resistant pathogens; PneumoniaEtiologiaHematologic NeoplasmsFemaleBLOOD-STREAM INFECTIONSLung TransplantationMicrobiology (medical)medicine.medical_specialtyAsiaNeutropeniaCommunity-acquired pneumonia030106 microbiologyRESPIRATORY-TRACT INFECTIONSHematologic NeoplasmsSettore MED/10 - Malattie Dell'Apparato RespiratorioTRANSPLANT RECIPIENTSDISEASES-SOCIETYMicrobiology03 medical and health sciencesImmunocompromised HostPneumonia BacterialMANAGEMENTHumanspneumoniaBACTERIAL PNEUMONIAImmunocompromiseAgedAcquired Immunodeficiency Syndromebusiness.industrymicrobiologyBacterial pneumoniaAustraliaPneumoniamedicine.diseaseMultidrug-resistant pathogensPneumoniamultidrug-resistant pathogensMycosesBacteremiaAfricaEtiologyRISK-FACTORSimmunocompromiseAmericasbusinessClinical Infectious Diseases
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CD3ε Expression Defines Functionally Distinct Subsets of Vδ1 T Cells in Patients With Human Immunodeficiency Virus Infection

2018

Human γδ T cells expressing the Vδ1 T cell receptor (TCR) recognize self and microbial antigens and stress-inducible molecules in a major histocompatibility complex -unrestricted manner and are an important source of innate interleukin-17. Vδ1 T cells are expanded in the circulation and intestines of patients with human immunodeficiency virus (HIV) infection. In the present study, we show that patients with HIV have elevated frequencies, but not absolute numbers, of circulating Vδ1 T cells compared to control subjects. This increase was most striking in the patients with Candida albicans co-infection. Using flow cytometry and confocal microscopy, we identify two populations of Vδ1 T cells, …

0301 basic medicineMalelcsh:Immunologic diseases. AllergyCD3 ComplexCD3T cellVδ1 T cellsImmunologyGene ExpressionHIV InfectionsMajor histocompatibility complexFlow cytometryImmunophenotypinginterleukin-1703 medical and health sciencesImmunophenotypingAntigenT-Lymphocyte SubsetsmedicineHumansImmunology and AllergyLymphocyte CountOriginal Researchprogrammed death-1biologymedicine.diagnostic_testhuman immunodeficiency virusCoinfectionflow cytometryT-cell receptorCandidiasisReceptors Antigen T-Cell gamma-deltaMolecular biology030104 developmental biologymedicine.anatomical_structurebiology.proteinHIV-1CytokinesFemaleInterleukin 17lcsh:RC581-607CD3εBiomarkersFrontiers in Immunology
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Evaluation of HIV transmission clusters among natives and foreigners living in Italy

2020

We aimed at evaluating the characteristics of HIV-1 molecular transmission clusters (MTCs) among natives and migrants living in Italy, diagnosed between 1998 and 2018. Phylogenetic analyses were performed on HIV-1 polymerase (pol) sequences to characterise subtypes and identify MTCs, divided into small (SMTCs, 2&ndash

0301 basic medicineMalelcsh:QR1-502SubtypeHIV InfectionsmigrantsBioinformatics; Cluster detection; Drug resistance testing; Human immunodeficiency virus (HIV); Migrants; Molecular epidemiology; Phylogenetic analysis; Risk factors; Subtypes; Transmission networks and clusters; Adult; Cohort Studies; Female; Genotype; HIV Infections; HIV-1; Humans; Italy; Male; Middle Aged; Sexual and Gender Minorities; pol Gene Products Human Immunodeficiency Virus; Emigrants and Immigrants; Phylogenylcsh:MicrobiologyMen who have sex with menCohort StudiesSexual and Gender Minorities0302 clinical medicineGenotypehuman immunodeficiency virus (HIV); molecular epidemiology; phylogenetic analysis; migrants; cluster detection; transmission networks and clusters; subtypes; drug resistance testing; risk factors; bioinformaticsMedicinerisk factors030212 general & internal medicinepol Gene ProductsHiv transmissionPhylogenySubtypesPhylogenetic analysisTransmission (medicine)subtypesvirus diseasesHuman immunodeficiency virus (HIV)bioinformaticsMiddle AgedTransmission networks and clustersCluster detectionInfectious DiseasesItalyMolecular epidemiologyCohortFemaleHuman Immunodeficiency VirusCohort studyAdultmedicine.medical_specialtyGenotypeBioinformaticsEmigrants and ImmigrantsMigrantsArticleNO03 medical and health sciencesPhylogenetic analysiVirologyHumansBioinformaticMolecular epidemiologybusiness.industryPublic healthphylogenetic analysisMigrantDrug resistance testingSettore MED/17030104 developmental biologyRisk factorspol Gene Products Human Immunodeficiency Virustransmission networks and clustersTransmission networks and clusters.HIV-1Risk factorbusinessDemography
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Effect of a Nutritional Intervention on the Intestinal Microbiota of Vertically HIV-Infected Children: The Pediabiota Study

2020

This article belongs to the Special Issue Role of Prebiotics and Probiotics in Health and Disease.

0301 basic medicineMalemedicine.medical_specialtyChildren and adolescentsTime FactorsHuman immunodeficiency virus (HIV)HIV Infectionslcsh:TX341-641Diseasemedicine.disease_causedigestive systemArticle03 medical and health sciences0302 clinical medicineDouble-Blind MethodIntervention (counseling)Internal medicineHiv infectedmedicinemicrobiotaHumans030212 general & internal medicineChildSymbiosisNutrition and Dieteticsbusiness.industryMicrobiotaProbioticsHIVInfectious Disease Transmission VerticalGastrointestinal MicrobiomePilots030104 developmental biologyPrebioticsAnti-Retroviral Agentschildren and adolescentsChild PreschoolDietary SupplementsVertical transmissionDysbiosisFemalevertical transmissionbusinessChild Nutritional Physiological Phenomenalcsh:Nutrition. Foods and food supplyFood ScienceNutrients
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Clinical effectiveness of influenza vaccination after allogeneic hematopoietic stem cell transplantation: A cross-sectional prospective observational…

2018

Abstract Background Vaccination is the primary method for preventing influenza respiratory virus infection (RVI). Although the influenza vaccine is able to achieve serological responses in some allogeneic hematopoietic stem cell transplantation (allo-HSCT) recipients, its clinical benefits are still uncertain. Methods In this prospective, cross-sectional study, we retrospectively analyzed the effect of inactivated trivalent influenza vaccination on the prevalence of influenza RVI in a consecutive cohort of 136 allo-HSCT adult recipients who developed 161 RVI over 5 flu seasons (from 2013 to 2018). Respiratory viruses in upper– and/or lower–respiratory tract specimens were tested using multi…

0301 basic medicineMalemedicine.medical_treatmentHematopoietic stem cell transplantationinfluenza virus0302 clinical medicineRisk FactorsOdds RatioMedicine030212 general & internal medicineProspective StudiesArticles and CommentariesImmunodeficiencybiologyVaccinationHematopoietic Stem Cell Transplantationvirus diseasesMiddle AgedVaccinationHospitalizationInfectious DiseasesTreatment OutcomeInfluenza VaccinesCohortFemaleMicrobiology (medical)Adultmedicine.medical_specialtyAdolescentInfluenza vaccine030106 microbiologyOrthomyxoviridae03 medical and health sciencesImmunocompromised HostYoung AdultInternal medicineInfluenza HumanHumansTransplantation Homologousallogeneic hematopoietic stem cell transplantationRisk factorAgedRetrospective Studiescommunity-acquired respiratory virusbusiness.industryOdds ratiomedicine.diseasebiology.organism_classificationCross-Sectional StudiesSpainbusinessimmunodeficiency score index
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Effects of Immunonutrition in Advanced Human Immunodeficiency Virus Disease: A Randomized Placebo-controlled Clinical Trial (Promaltia Study)

2018

[Background]: While nutritional interventions with prebiotics and probiotics seem to exert immunological effects, their clinical implications in human immunodeficiency virus (HIV)–infected subjects initiating antiretroviral therapy (ART) at advanced HIV disease remain unclear.

0301 basic medicineMicrobiology (medical)medicine.medical_specialtySynbioticsCD4 T cellsPlaceboGastroenterologylaw.invention03 medical and health sciences0302 clinical medicineRandomized controlled trialAcquired immunodeficiency syndrome (AIDS)lawInternal medicinemedicineImmunoactivation030212 general & internal medicineYoung adultAdverse effectInflammationbusiness.industrySurrogate endpointMicrobiotaProbioticsvirus diseasesmedicine.diseaseClinical trial030104 developmental biologyInfectious DiseasesbusinessClinical Infectious Diseases
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Identification of fatal outcome in a childhood nasopharyngeal carcinoma patient by protein expression profiling.

2017

Nasopharyngeal carcinoma (NPC) is a rare disease in children with good prognosis and high cure rate. Nevertheless, certain patients have an unfavorable prognosis due to development of refractory NPC that is unresponsive to any therapeutic strategies. The current study studies a case of a 17 years-old female with non-keratinizing NPC type IIb (T2N0M0), who passed away as a consequence of resistance to chemo-, radio- and β-interferon therapy, and to an allogenic stem cell transplantation. In order to identify factors that lead to treatment failure and fatal outcome, immunohistochemical analyses of different tumor biomarkers and hierarchical cluster analysis were performed and compared with th…

0301 basic medicineOncologyMaleCancer Researchmedicine.medical_specialtyHerpesvirus 4 HumanAdolescentBiologymedicine.disease_causeVirusViral Matrix Proteins03 medical and health sciencesImmunocompromised Host0302 clinical medicineLymphocytes Tumor-InfiltratingInternal medicineotorhinolaryngologic diseasesmedicineBiomarkers TumorHumansProspective StudiesChildImmunodeficiencyNasopharyngeal CarcinomaTumor-infiltrating lymphocytesGene Expression ProfilingVaricella zoster virusCancermedicine.diseasePrognosisImmunohistochemistryTransplantationstomatognathic diseases030104 developmental biologyHerpes simplex virusOncologyNasopharyngeal carcinomaDrug Resistance Neoplasm030220 oncology & carcinogenesisFemaleNeoplasm Recurrence LocalStem Cell TransplantationInternational journal of oncology
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Plasmablastic lymphoma as a manifestation of the human immunodeficiency virus: Case report

2020

Plasmablastic lymphoma is a rare subtype of non-Hodgkin’s lymphoma, which generally presents an aggressive clinical course and low survival rates. It is strongly associated with HIV infection and the most common site of involvement of the territory of the head and neck is Waldeyer’s lymphatic ring, followed by the gastrointestinal tract, lymph nodes and skin. The morphological characteristics of PBL in the oral cavity / jaw in the context of HIV infection show diffuse sheets of large immunoblastic cells with abundant cytoplasm, vesicular chromatin and prominent nucleus, a small located in the center with plasma cells differentiation. The main goal of this article is to review the literature…

0301 basic medicinePathologymedicine.medical_specialtyHuman immunodeficiency virus (HIV)Case ReportContext (language use)medicine.disease_cause03 medical and health sciences0302 clinical medicineAcquired immunodeficiency syndrome (AIDS)immune system diseaseshemic and lymphatic diseasesmedicineGeneral DentistryGastrointestinal tractOral Medicine and Pathologybusiness.industry:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseLymphoma030104 developmental biologyLymphatic system030220 oncology & carcinogenesisUNESCO::CIENCIAS MÉDICASLymphbusinessPlasmablastic lymphomaJournal of Clinical and Experimental Dentistry
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