0000000000598527

AUTHOR

Alessandro Plebani

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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Epidemiology, Clinical Features and Prognostic Factors of Pediatric SARS-CoV-2 Infection: Results From an Italian Multicenter Study

2021

Background: Many aspects of SARS-CoV-2 infection in children and adolescents remain unclear and optimal treatment is debated. The objective of our study was to investigate epidemiological, clinical and therapeutic characteristics of pediatric SARS-CoV-2 infection, focusing on risk factors for complicated and critical disease.Methods: The present multicenter Italian study was promoted by the Italian Society of Pediatric Infectious Diseases, involving both pediatric hospitals and general pediatricians/family doctors. All subjects under 18 years of age with documented SARS-CoV-2 infection and referred to the coordinating center were enrolled from March 2020.Results: As of 15 September 2020, 75…

Pediatricsmedicine.medical_specialtyCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)MIS-CDisease030204 cardiovascular system & hematologyPediatrics03 medical and health sciences0302 clinical medicinechildren030225 pediatricsEpidemiologymedicinebookOriginal Researchmultisystem inflammatory syndromeMIS-C COVID-19business.industrySARS-CoV-2 infectionDisease progressionlcsh:RJ1-570COVID-19lcsh:PediatricsSettore MED/38Icu admissionCOVID-19; MIS-C; SARS-CoV-2 infection; children; multisystem inflammatory syndromeMulticenter studyPediatrics Perinatology and Child HealthPediatric Infectious Diseasebook.journalbusiness
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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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