2025
Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity
Novotny S, Yoo N, Chen J, Granoth M, Kohli-Pamnani A, Hsu F, Rodenas M, Steele R, Kaman K, Soffer G, Price C, Kuster J, Kang I, Osmani L, Shin J. Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity. Clinical Immunology 2025, 277: 110513. PMID: 40354868, DOI: 10.1016/j.clim.2025.110513.Peer-Reviewed Original ResearchInborn errors of immunityErrors of immunityGenetic variantsInborn errorsAssociation of clinical manifestationsGene clusterGene functionStudy evaluated associationsImmune alterationsDiagnostic challengeClinical manifestationsImmunological profileGenetic testingVUSGenesImmunological characteristicsImmune functionLaboratory dataImmunityVariantsAssociationPatients
2020
Immune Cells in the Placental Villi Contribute to Intra-amniotic Inflammation
Toothaker JM, Presicce P, Cappelletti M, Stras SF, McCourt CC, Chougnet CA, Kallapur SG, Konnikova L. Immune Cells in the Placental Villi Contribute to Intra-amniotic Inflammation. Frontiers In Immunology 2020, 11: 866. PMID: 32528468, PMCID: PMC7256198, DOI: 10.3389/fimmu.2020.00866.Peer-Reviewed Original ResearchConceptsFetal-maternal interfaceIntra-amniotic inflammationImmune cellsVillous placentaT cellsPlacental villiNatural killerTumor necrosis factor alphaAbundance of neutrophilsIA LPS exposureCD8 T cellsMemory T cellsAntigen-presenting cellsRhesus macaque modelNecrosis factor alphaDistinct immunological profilePotential therapeutic targetTNFα blockadeLPS exposureSignificant morbidityMacaque modelProinflammatory cytokinesImmunological profileFactor alphaImmunological responseImmunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum
Shin JJ, Liauw D, Siddiqui S, Lee J, Chung EJ, Steele R, Hsu FI, Price C, Kang I. Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum. Journal Of Clinical Immunology 2020, 40: 592-601. PMID: 32239366, PMCID: PMC7260109, DOI: 10.1007/s10875-020-00773-y.Peer-Reviewed Original ResearchConceptsCommon variable immunodeficiencyInterstitial lung diseasePrimary antibody deficiencyConnective tissue diseaseAntibody deficiencyLow NK cell countHematopoietic malignanciesNon-infectious complicationsNon-infectious manifestationsNK cell countsNatural killer cellsPneumococcal vaccine responsesElectronic medical recordsResultsAll patientsImmune alterationsVaccine responsesKiller cellsTissue diseaseImmunoglobulin levelsVariable immunodeficiencyLung diseasePAD groupIgG deficiencyImmunological profileMedical records
2019
Tumor regression mediated by oncogene withdrawal or erlotinib stimulates infiltration of inflammatory immune cells in EGFR mutant lung tumors
Ayeni D, Miller B, Kuhlmann A, Ho PC, Robles-Oteiza C, Gaefele M, Levy S, de Miguel FJ, Perry C, Guan T, Krystal G, Lockwood W, Zelterman D, Homer R, Liu Z, Kaech S, Politi K. Tumor regression mediated by oncogene withdrawal or erlotinib stimulates infiltration of inflammatory immune cells in EGFR mutant lung tumors. Journal For ImmunoTherapy Of Cancer 2019, 7: 172. PMID: 31291990, PMCID: PMC6617639, DOI: 10.1186/s40425-019-0643-8.Peer-Reviewed Original ResearchConceptsTyrosine kinase inhibitorsEGFR-mutant lung cancerMutant lung cancerTumor regressionErlotinib treatmentLung cancerImmune cellsLung tumorsMouse modelEffects of TKIsGrowth factor receptor tyrosine kinase inhibitorsTumor-infiltrating immune cellsDrug resistanceReceptor tyrosine kinase inhibitorsInflammatory immune cellsInflammatory T cellsEffect of erlotinibEGFR mutant lung tumorsInflammatory cellsImmunological profileT cellsCD40 agonistsImmunostimulatory effectsAlveolar macrophagesErlotinib
2008
Cytometric profiling in multiple sclerosis uncovers patient population structure and a reduction of CD8low cells
De Jager PL, Rossin E, Pyne S, Tamayo P, Ottoboni L, Viglietta V, Weiner M, Soler D, Izmailova E, Faron-Yowe L, O’Brien C, Freeman S, Granados S, Parker A, Roubenoff R, Mesirov JP, Khoury SJ, Hafler DA, Weiner HL. Cytometric profiling in multiple sclerosis uncovers patient population structure and a reduction of CD8low cells. Brain 2008, 131: 1701-1711. PMID: 18567923, PMCID: PMC2730047, DOI: 10.1093/brain/awn118.Peer-Reviewed Original ResearchConceptsRelapsing-remitting MSImmunological profileRRMS subjectsPeripheral bloodUntreated subjectsNatural killer cell profileComprehensive Longitudinal InvestigationAbsence of treatmentCell surface markersCIS subjectsDemyelinating diseaseDemyelination syndromeWomen's HospitalHealthy controlsCytometric profilingCell profilesMonoclonal antibodiesExtension phaseFresh bloodBiomarker discovery effortsDistinct subsetsBloodCell populationsGating strategyHospital
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