2023
Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations
Borna Š, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, Mavers M, Lakshmanan U, Narula M, Garrett A, Schulze J, Olek S, Marois L, Gernez Y, Bhatia M, Chong H, Walter J, Kitcharoensakkul M, Lang A, Cooper M, Bertaina A, Roncarolo M, Meffre E, Bacchetta R. Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations. Science Translational Medicine 2023, 15: eadg6822. PMID: 38117899, PMCID: PMC11070150, DOI: 10.1126/scitranslmed.adg6822.Peer-Reviewed Original ResearchConceptsAutoreactive effector T cellsEffector T cellsAutoreactive T cellsT cellsThymic-derived regulatory T cellsHematopoietic stem cell transplantationT cell receptor repertoireEctodermal dystrophy syndromeT-cell abnormalitiesRegulatory T cellsStem cell transplantationT cell autoreactivityCell receptor repertoireTranscription factor Foxp3FOXP3 mutationsImmunomodulatory treatmentImmune dysregulationPeripheral toleranceCell transplantationFoxp3 deficiencyTCR sequencingFactor Foxp3Patient's TCell abnormalitiesPatients
2022
HIV viral transcription and immune perturbations in the CNS of people with HIV despite ART
Farhadian SF, Lindenbaum O, Zhao J, Corley MJ, Im Y, Walsh H, Vecchio A, Garcia-Milian R, Chiarella J, Chintanaphol M, Calvi R, Wang G, Ndhlovu LC, Yoon J, Trotta D, Ma S, Kluger Y, Spudich S. HIV viral transcription and immune perturbations in the CNS of people with HIV despite ART. JCI Insight 2022, 7: e160267. PMID: 35801589, PMCID: PMC9310520, DOI: 10.1172/jci.insight.160267.Peer-Reviewed Original ResearchConceptsCerebrospinal fluidHIV infectionHIV-1-infected cellsCNS viral persistenceCentral memory CD4T-cell abnormalitiesHIV-1 RNAMicroglia-like cellsT cell activationSystemic viral suppressionAbnormal CD8HIV neuropathogenesisViral suppressionMemory CD4CNS reservoirsImmune perturbationsExperience elevated ratesNeuroimmune effectsPeripheral bloodNeurological impairmentViral persistenceT cellsCell abnormalitiesUninfected controlsCell activation
2015
Genes Influencing the Development and Severity of Chronic ITP Identified through Whole Exome Sequencing
Despotovic J, Polfus L, Flanagan J, Bennett C, Lambert M, Neunert C, Kumar M, Klaassen R, Thornburg C, Jeng M, Recht M, Kirk S, Thompson A, Nugent D, Neufeld E, Bussel J, Boerwinkle E, Grace R. Genes Influencing the Development and Severity of Chronic ITP Identified through Whole Exome Sequencing. Blood 2015, 126: 73. DOI: 10.1182/blood.v126.23.73.73.Peer-Reviewed Original ResearchChronic immune thrombocytopeniaWhole-exome sequencingEntity's Board of DirectorsPathophysiology of immune thrombocytopeniaImmune thrombocytopeniaImmune thrombocytopenia casesTGF-b signalingPhenotypic dataExome sequencingTGF-bCellular immunityGene-based testsWhole-exome sequencing analysisITP susceptibilityCases compared to controlsSecond line therapyImmune thrombocytopenia therapiesPlatelet count >T-cell abnormalitiesRegulatory T cellsT cell numbersPrimary immune thrombocytopeniaDisease severityCD34+ cellsImmune thrombocytopenia pathogenesis
2014
Case Report
Magid-Bernstein J, Mahajan K, Lincoln J, Ming X, Rohowsky-Kochan C. Case Report. Journal Of Child Neurology 2014, 30: 386-390. PMID: 24736120, DOI: 10.1177/0883073814529821.Peer-Reviewed Original ResearchConceptsT cellsCytokine profileInterleukin-17T cell cytokine profilesT-cell abnormalitiesT regulatory (Treg) cellsGender-matched controlsImmune alterationsRegulatory cellsDifferent comorbiditiesMultiple sclerosisCase reportNeurodevelopmental disordersMonozygotic twinsComorbiditiesInterferonAutism spectrum disorderDisordersHigh percentageSpectrum disorderCells
1998
Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype
Weinzimer S, McDonald-McGinn D, Driscoll D, Emanuel B, Zackai E, Moshang T. Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype. 1998, 101: 929-932. PMID: 9565428, DOI: 10.1542/peds.101.5.929.Peer-Reviewed Original ResearchConceptsGrowth hormone deficiencyShort statureCardiac anomaliesHormone deficiencyVelocardiofacial syndromeLike growth factor I axisProvocative growth hormone testingT-cell abnormalitiesGrowth hormone therapyGrowth hormone testingFinal height predictionConotruncal cardiac anomaliesThird of childrenConotruncal anomaly face syndromeMild facial dysmorphiaHormone therapyPituitary anatomyHormone testingPituitary abnormalitiesI axisThymic aplasiaCell abnormalitiesGeneral populationPatientsDiGeorge sequence
1989
MS: a CNS and systematic autoimmune disease
Hafler D, Weiner H. MS: a CNS and systematic autoimmune disease. Trends In Immunology 1989, 10: 104-107. PMID: 2472810, DOI: 10.1016/0167-5699(89)90236-3.Peer-Reviewed Original ResearchConceptsPeripheral immune compartmentCentral nervous systemImmune compartmentMultiple sclerosisImmunoregulatory defectsMS patientsAutoimmune diseasesCNS inflammatory responsesTotal lymphoid irradiationProgressive multiple sclerosisT-cell abnormalitiesB cell hyperactivitySystemic lupus erythematosusT cell functionSystematic autoimmune diseaseActivated T cellsLymphoid irradiationDisease activityImmune abnormalitiesSystemic treatmentLupus erythematosusRheumatoid arthritisPeripheral bloodInflammatory diseasesInflammatory response
1985
Phenotypic and functional analysis of T cells cloned directly from the blood and cerebrospinal fluid of patients with multiple sclerosis
Hafler D, Buchsbaum M, Johnson D, Weiner H. Phenotypic and functional analysis of T cells cloned directly from the blood and cerebrospinal fluid of patients with multiple sclerosis. Annals Of Neurology 1985, 18: 451-458. PMID: 2416267, DOI: 10.1002/ana.410180407.Peer-Reviewed Original ResearchConceptsMultiple sclerosisBlood of patientsT cellsMyelin basic proteinCerebrospinal fluid lymphocytesT-cell abnormalitiesCSF of patientsAntigen-specific cellsIndividual T cellsBasic proteinSuppressor cellsViral meningoencephalitisStimulating lymphocytesInterleukin-2Antigen reactivityCell abnormalitiesCerebrospinal fluidSingle cell clonal analysisPatientsT8 populationWhite matterBloodCSFSclerosisLymphocytes
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