0000000000629504

AUTHOR

Robin Kobbe

showing 6 related works from this author

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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ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

2022

The International Severe Acute Respiratory and Emerging Infection Consortium (ISARIC) COVID-19 dataset is one of the largest international databases of prospectively collected clinical data on people hospitalized with COVID-19. This dataset was compiled during the COVID-19 pandemic by a network of hospitals that collect data using the ISARIC-World Health Organization Clinical Characterization Protocol and data tools. The database includes data from more than 705,000 patients, collected in more than 60 countries and 1,500 centres worldwide. Patient data are available from acute hospital admissions with COVID-19 and outpatient follow-ups. The data include signs and symptoms, pre-existing como…

EğitimSocial Sciences and HumanitiesInformation Security and ReliabilitySocial Sciences (SOC)Sosyal Bilimler ve Beşeri BilimlerEpidemiologyEDUCATION & EDUCATIONAL RESEARCHTemel Bilimler (SCI)BİLGİSAYAR BİLİMİ BİLGİ SİSTEMLERİMATHEMATICSSociology[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesProspective StudiesCOMPUTER SCIENCE INFORMATION SYSTEMSSTATISTICS & PROBABILITYMatematikBilgisayar Bilimi UygulamalarıComputer SciencesBilgi Güvenliği ve GüvenilirliğiEĞİTİM VE EĞİTİM ARAŞTIRMASIBİLGİ BİLİMİ VE KÜTÜPHANE BİLİMİBilgi sistemiComputer Science ApplicationsKütüphane ve Bilgi BilimleriHospitalizationNatural Sciences (SCI)Physical SciencesEngineering and TechnologySosyal Bilimler (SOC)Bilgisayar BilimiStatistics Probability and UncertaintyInformation SystemsHumanStatistics and ProbabilityHumans; Pandemics; Prospective Studies; SARS-CoV-2; COVID-19; HospitalizationSOCIAL SCIENCES GENERALLibrary and Information SciencesEducationSDG 3 - Good Health and Well-beingLibrary SciencesINFORMATION SCIENCE & LIBRARY SCIENCEİstatistik ve OlasılıkHumansSosyal ve Beşeri BilimlerBilgisayar BilimleriSocial Sciences & HumanitiesEngineering Computing & Technology (ENG)SosyolojiPandemicsPandemicSARS-CoV-2İSTATİSTİK & OLASILIKCOVID-19Mühendislik Bilişim ve Teknoloji (ENG)İstatistik Olasılık ve BelirsizlikSosyal Bilimler GenelCOMPUTER SCIENCEProspective StudieFizik BilimleriViral infectionMühendislik ve TeknolojiKütüphanecilik
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Respiratory support in patients with severe COVID-19 in the International Severe Acute Respiratory and Emerging Infection (ISARIC) COVID-19 study: a …

2022

Invasive mechanical ventilation; COVID-19; Critical care Ventilación mecánica invasiva; COVID-19; Cuidado crítico Ventilació mecànica invasiva; COVID-19; Atenció crítica Background Up to 30% of hospitalised patients with COVID-19 require advanced respiratory support, including high-flow nasal cannulas (HFNC), non-invasive mechanical ventilation (NIV), or invasive mechanical ventilation (IMV). We aimed to describe the clinical characteristics, outcomes and risk factors for failing non-invasive respiratory support in patients treated with severe COVID-19 during the first two years of the pandemic in high-income countries (HICs) and low middle-income countries (LMICs). Methods This is a multin…

:enfermedades respiratorias::trastornos respiratorios::insuficiencia respiratoria [ENFERMEDADES]COVID-19; Critical care; High flow nasal cannula; Invasive mechanical ventilationRespiració artificialCritical Care and Intensive Care Medicine[SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractCOVID-19 (Malaltia) - Tractament[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesCOVID-19; Critical care; High flow nasal cannula; Invasive mechanical ventilation; Humans; Prospective Studies; SARS-CoV-2; Tachypnea; COVID-19; Respiratory Insufficiency:virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES]HumansProspective StudiesInvasive mechanical ventilation:Otros calificadores::/terapia [Otros calificadores]TachypneaInsuficiència respiratòria - TractamentSARS-CoV-2:Therapeutics::Therapeutics::Respiratory Therapy::Respiration Artificial::Noninvasive Ventilation [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]COVID-19:Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES]:Other subheadings::/therapy [Other subheadings]:terapéutica::terapéutica::terapia respiratoria::respiración artificial::ventilación no invasiva [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]:Respiratory Tract Diseases::Respiration Disorders::Respiratory Insufficiency [DISEASES]High flow nasal cannulaProspective StudieCritical careRespiratory InsufficiencyHumanCritical Care
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Phylogenomics of Mycobacterium africanum reveals a new lineage and a complex evolutionary history.

2021

Coscolla et al.

0301 basic medicineEvolutionmycobacteriaLineage (evolution)030106 microbiologyPopulation610 Medicine & healthSystems Microbiology: Large-scale comparative genomicsGenomediversityMycobacterium tuberculosisEvolution Molecular03 medical and health sciences360 Social problems & social servicesPhylogenomicsevolutionDrug Resistance BacterialHumansTuberculosiseducationgenomePhylogeny030304 developmental biology0303 health scienceseducation.field_of_studyGenetic diversityDiversityGenomeMycobacterium africanumbiologyWhole Genome Sequencing030306 microbiologyMycobacteriaHigh-Throughput Nucleotide SequencingGeneral MedicineMycobacterium tuberculosisAfrica Easternbiology.organism_classification3. Good healthPhylogeographyAfrica WesternPhylogeography030104 developmental biologyMycobacterium tuberculosis complexEvolutionary biologyMycobacterium africanumGenome BacterialResearch Article
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Characteristics and outcomes of an international cohort of 600 000 hospitalized patients with COVID-19

2023

Abstract Background We describe demographic features, treatments and clinical outcomes in the International Severe Acute Respiratory and emerging Infection Consortium (ISARIC) COVID-19 cohort, one of the world's largest international, standardized data sets concerning hospitalized patients. Methods The data set analysed includes COVID-19 patients hospitalized between January 2020 and January 2022 in 52 countries. We investigated how symptoms on admission, co-morbidities, risk factors and treatments varied by age, sex and other characteristics. We used Cox regression models to investigate associations between demographics, symptoms, co-morbidities and other factors with risk of death, admiss…

MaleEpidemiologyMESH: HospitalizationMESH: Proportional Hazards ModelsMESH: Risk FactorsRisk FactorsMESH: Childcohort studyMESH: COVID-19HumansMESH: SARS-CoV-2ChildProportional Hazards ModelsMESH: HumansMESH: Middle AgedSARS-CoV-2COVID-19risk of deathGeneral MedicineMiddle AgedCOVID-19; SARS-CoV-2; co-morbidities; cohort study; risk of death; symptoms; treatmentsMESH: MaleHospitalizationIntensive Care Unitsco-morbiditiestreatmentssymptomsMESH: Intensive Care Units[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieCOVID-19/therapy
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The value of open-source clinical science in pandemic response

2021

International audience

Biomedical Research[SDV]Life Sciences [q-bio]Clinical scienceGlobal HealthCorrectionsMicrobiology1117 Public Health and Health Services1108 Medical MicrobiologyPandemicEconomicsHumansISARIC Clinical Characterisation GroupPandemicsCOVID-19/epidemiologyActuarial scienceInformation DisseminationSARS-CoV-2CommentISARICCOVID-191103 Clinical SciencesCommunicable Disease Control/methodsInfectious DiseasesOpen sourceCommunicable Disease ControlCOVID-19; Communicable Disease Control; Global Health; Humans; SARS-CoV-2; Biomedical Research; Information Dissemination; PandemicsValue (mathematics)HumanThe Lancet Infectious Diseases
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