0000000000598526

AUTHOR

Vassilios Lougaris

showing 3 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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Consensus statement of the Italian society of pediatric allergy and immunology for the pragmatic management of children and adolescents with allergic…

2020

AbstractThe COVID-19 pandemic has surprised the entire population. The world has had to face an unprecedented pandemic. Only, Spanish flu had similar disastrous consequences. As a result, drastic measures (lockdown) have been adopted worldwide. Healthcare service has been overwhelmed by the extraordinary influx of patients, often requiring high intensity of care. Mortality has been associated with severe comorbidities, including chronic diseases. Patients with frailty were, therefore, the victim of the SARS-COV-2 infection. Allergy and asthma are the most prevalent chronic disorders in children and adolescents, so they need careful attention and, if necessary, an adaptation of their regular…

AllergyReview030207 dermatology & venereal diseasesSettore MED/38 - Pediatria Generale E Specialistica0302 clinical medicineCOVID-19 ; Child ; Pandemic ; Allergy ; Immunologic disease ; Asthma ; AdolescentPandemicViral030212 general & internal medicineDisease management (health)ChildSocieties MedicalCOVID-19; pandemic; child; adolescent; allergy; asthma; immunologic diseaseIncidence (epidemiology)lcsh:RJ1-570Disease ManagementGeneral MedicineAtopic dermatitisSettore MED/38Adolescent; Allergy; Asthma; Child; COVID-19; Immunologic disease; Pandemic; Adolescent; COVID-19; Child; Coronavirus Infections; Decision Making; Humans; Italy; Pneumonia Viral; Pragmatic Clinical Trials as Topic; SARS-CoV-2; Allergy and Immunology; Betacoronavirus; Consensus; Disease Management; Pandemics; Societies MedicalItalyLatex allergyAdolescent; Allergy; Asthma; COVID-19; Child; Immunologic disease; PandemicCoronavirus InfectionsHumanTelemedicineConsensusAdolescentDecision MakingPneumonia ViralConsensuBetacoronavirus03 medical and health sciencesMedicalAllergy and ImmunologyPragmatic Clinical Trials as TopicmedicineHumansRisk factorPandemicsPandemicBetacoronavirubusiness.industryCoronavirus InfectionSARS-CoV-2COVID-19lcsh:PediatricsPneumoniamedicine.diseaseAsthmaAdolescent; Allergy; Asthma; Child; COVID-19; Immunologic disease; PandemicImmunologic diseaseImmunologySocietiesbusinessRare disease
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Non-specific oral and cutaneous manifestations of coronavirus disease 2019 in children

2020

Background Coronavirus Disease 2019 (COVID-19) seems to affect children only marginally, as a result, there is less knowledge of its manifestations in childhood. The purpose of this retrospective cross-sectional study was to investigate the oral and cutaneous manifestations in children affected by COVID-19. Material and Methods All the medical records of children with COVID-19 admitted to the Pediatric Clinic- ASST Spedali Civili of Brescia from March to April 2020 were reviewed. The following data were recorded: age, temperature, clinical presentation, oral mucosa lesions, taste alteration and cutaneous lesions. Results The medical records of twenty-seven pediatric patients (mean age 4,2 y…

Oralmedicine.medical_specialtyCross-sectional studyChild; COVID-19; Oral mucosa; TasteDisease03 medical and health sciences0302 clinical medicineCandidiasis OralmedicineHumansdental healthOral mucosaPreschoolChildGeneral DentistryUNESCO:CIENCIAS MÉDICASRetrospective StudiesOral Medicine and Pathologybusiness.industrySARS-CoV-2ResearchMedical recordPharynxCandidiasisCOVID-19Retrospective cohort study030206 dentistryChild; COVID-19; Oral mucosa; Taste; Child; Child Preschool; Cross-Sectional Studies; Humans; Retrospective Studies; SARS-CoV-2; COVID-19; Candidiasis Oralmedicine.diseaseDermatologyGeographic tonguemedicine.anatomical_structureCross-Sectional StudiesOtorhinolaryngologymeige syndromeChild PreschoolTasteoral health-related quality of lifeSurgeryOral mucosaPresentation (obstetrics)oromandibular dystoniabusiness
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