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The molecular and cellular mechanisms of the STAT3 mutation-mediated pulmonary disorder in Autosomal Dominant Hyper IgE Syndrome (AD-HIES)
Organization UNIV OF NORTH CAROLINA CHAPEL HILLLocation CHAPEL HILL, UNITED STATESPosted 5 Mar 2022Deadline 28 Feb 2026 ⚠️
NIHUS FederalResearch GrantFY2025ATLECAdenosineAirAirway imagingAlternative TherapiesAlternative interventionAntimorphic mutationAtelectasisAttentionBacterial InfectionsBasal Transcription FactorBasal transcription factor genesBone MarrowBone Marrow Reticuloendothelial SystemCAT scanCFTRCFTR ProteinCRISPR approachCRISPR based approachCRISPR methodCRISPR methodologyCRISPR techniqueCRISPR technologyCRISPR toolsCRISPR-CAS-9CRISPR-based methodCRISPR-based techniqueCRISPR-based technologyCRISPR-based toolCRISPR/CAS approachCRISPR/Cas methodCRISPR/Cas technologyCRISPR/Cas9CRISPR/Cas9 technologyCT X RayCT XrayCT imagingCT scanCas nuclease technologyCase StudyCausalityCell BodyCell Culture TechniquesCell DifferentiationCell Differentiation processCell FunctionCell PhysiologyCell ProcessCellsCellular FunctionCellular PhysiologyCellular ProcessCharacteristicsChloridesChronicCiliaClinical TrialsClustered Regularly Interspaced Short Palindromic Repeats approachClustered Regularly Interspaced Short Palindromic Repeats methodClustered Regularly Interspaced Short Palindromic Repeats methodologyClustered Regularly Interspaced Short Palindromic Repeats techniqueClustered Regularly Interspaced Short Palindromic Repeats technologyComputed TomographyCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDNA mutationDataDefectDevelopmentDominant NegativeDominant-Negative MutantDominant-Negative MutationDyneinDynein ATPaseDynein Adenosine TriphosphataseDynein AdenosinetriphosphataseEXTMREczemaEczematous DermatitisElementsEosinophiliaEpithelial CellsEtiologyExhibitsExposure toExtramuralExtramural ActivitiesFailureFrequenciesFungus DiseasesGasesGene TranscriptionGeneral Transcription Factor GeneGeneral Transcription FactorsGenesGenetic ChangeGenetic TranscriptionGenetic defectGenetic mutationGoalsHSC transplantationHematopoietic Stem Cell TransplantHematopoietic Stem Cell TransplantationHigh Resolution Computed TomographyHost DefenseHumanHydrationHydration statusHydrogen OxideHyper-IgE SyndromeHyperimmunoglobulin E SyndromeHyperimmunoglobulin E-Recurrent Infection SyndromeIgEImageImaging ProceduresImaging TechnicsImaging TechniquesImmunoglobulin EImpairmentIn VitroInfectionInfectious Skin DiseasesInflammationInflammatoryInstitutionIntramural ProgramIntramural Research ProgramIonsJob's SyndromeKartagener SyndromeKartagener TriadLocomotor ActivityLong-term infectionLungLung DiseasesLung Respiratory SystemLung infectionsMR ImagingMR TomographyMRIMRIsMagnetic Resonance ImagingMeasurementMeasuresMediatingMedical Imaging, Magnetic Resonance / Nuclear Magnetic ResonanceMedical centerMetabolic Clearance RateModalityModern ManMolecularMorbidityMorbidity - disease rateMotor ActivityMucociliary ClearanceMucociliary TransportMucosaMucosal TissueMucous MembraneMucous body substanceMucoviscidosisMucusMutationMycosesNHLBINIAIDNMR ImagingNMR TomographyNasalNasal Passages NoseNational Heart, Lung, and Blood InstituteNational Institute of Allergy and Infectious DiseaseNational Institutes of HealthNoseNuclear Magnetic Resonance ImagingObstructionOrphan DiseasePathogenesisPathway interactionsPatientsPatternPerformancePhenotypePhysiologicPhysiologicalPneumoniaPolynesian bronchiectasisPrimary Ciliary DyskinesiasPrimary ImmunodeficiencyProceduresPropertyPulmonary DiseasesPulmonary DisorderRNA ExpressionRare DiseasesRare DisorderRecurrenceRecurrentRegulationResistanceRespiratory EpitheliumRespiratory System, Nose, Nasal PassagesRiskRoleSTAT3STAT3 geneSTAT3 loss of functionSalineSaline SolutionStimulusStructure of respiratory epitheliumSubcellular ProcessSurfaceSurvivorsSystemT-CellsT-LymphocyteTechnologyTestingTherapeuticThickThicknessTomodensitometryTranscriptionTranscription Factor Proto-OncogeneTranscription factor genesTransgenic MiceUnited States National Institutes of HealthViscosityWaterX-Ray CAT ScanX-Ray Computed TomographyX-Ray Computerized TomographyX-ray microtomographyXray CAT scanXray Computed TomographyXray computerized tomographyXray microtomographyZeugmatographyairway epitheliumautosomebacteria infectionbacterial diseaseblood stem cell transplantationbronchial epitheliumcase reportcatscancausationcell culturecell culturescellular differentiationchronic infectioncilium motilityclearance rateclinical centercomputed axial tomographycomputer tomographycomputerized axial tomographycomputerized tomographycongenital immune deficiencycongenital immunodeficiencycutaneous infectioncystic fibrosis transmembrane regulatordefense responsedevelopmentaldisease causationdisease of the lungdisorder of the lungecto-adenosine triphosphataseecto-atpaseectoATPaseeczematousepithelial repairfungal infectionfungus infectiongenetic immune defectgenetic immune deficiencygenetic immunodeficiencygenome mutationhematopoietic cell transplantationhematopoietic cellular transplantationhematopoietic progenitor cell transplantationhigh resolution CTimage-based methodimagingimaging methodimaging modalityimmune reconstitutionimprovedin vitro Assayin vitro activityin vitro testingin vivoinborn errors in immunityinborn errors of immunityinborn immunodeficiencyinfected skininherited immune defectinherited immune deficiencyinherited immunodeficiencyinhibitorinjury and repairlung disordermicro CTmicro computed tomographymicroCTmicrotomographymortalitymucousmucus clearancemutantnew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnon-contrast CTnoncontrast CTnoncontrast computed tomographynovelnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapyorphan disorderoverexpressoverexpressionpathwaypersistent infectionphysiological defense responseprimary immune defectprimary immune deficiencypulmonarypulmonary infectionsquantitative imagingrare genetic diseaserare genetic disorderreconstitutereconstitutionresistantrespiratory imagingrespiratory tract epitheliumskin infectionsmall moleculesocial rolesuper high resolutionsuperresolutiontargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttherapeutic evaluationtherapeutic testingthymus derived lymphocytetranscription factorultra high resolutionventilation
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Description preview
Abstract: Autosomal Dominant Hyper IgE Syndrome (AD-HIES) is a rare genetic disease characterized by
elevated IgE, eosinophilia, eczema, recurrent skin infections, and pneumonia. AD-HIES is most frequently
caused by mutations in the STAT3 gene, leading to impaired TH17 cell differentiation and recurrent pulmonary
infections, a major cause of…
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