0000000000228878

AUTHOR

Dirk Holzinger

showing 4 related works from this author

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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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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Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
researchProduct

Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study

2019

Made available in DSpace on 2019-10-05T16:54:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-04-01 IRCCS Istituto Giannina Gaslini Background To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. Methods In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile …

Malemedicine.medical_specialtyChildhood arthritisCross-sectional studyPopulationGlobal HealthPediatrics03 medical and health sciences0302 clinical medicine030225 pediatricsEpidemiologymedicineDevelopmental and Educational PsychologyJournal ArticleHumansPediatrics Perinatology and Child Health; Developmental and Educational Psychology030212 general & internal medicineHealthcare DisparitiesChildeducationDisease burdenPain MeasurementRetrospective Studieseducation.field_of_studyOligoarthritisbusiness.industryPerinatology and Child HealthJuvenile idiopathic arthritismedicine.diseaseJUVENILE IDIOPATHIC ARTHRITIS; OF-RHEUMATOLOGY RECOMMENDATIONS; DISEASE-ACTIVITY SCORE; DEFINING CRITERIA; CLASSIFICATION; CHILDREN; EPIDEMIOLOGY; VALIDATION; COUNTRIES; VALIDITYArthritis Juvenilechildhood arthritisphenotypic variabilityobservational cohort studyCross-Sectional StudiesBiological Variation PopulationSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAAntirheumatic AgentsChild PreschoolPediatrics Perinatology and Child HealthQuality of LifeFemalePolyarthritisJuvenile idiopatic arthritis of-rheumatology recommentadions disease-activity score defining criteria classification children epidemiology validation countries validitybusinessDemographyCohort study
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