2020
Chapter 51 Multiple Sclerosis
Wesley S, Hafler D. Chapter 51 Multiple Sclerosis. 2020, 961-986. DOI: 10.1016/b978-0-12-812102-3.00051-8.Peer-Reviewed Original ResearchMultiple sclerosisModern treatment paradigmsAutoreactive T cellsPeripheral immune systemCentral nervous systemTreatable diseaseInflammatory processTreatment paradigmT cellsNervous systemDisease pathogenesisImmune systemUnknown originUntreatable diseaseSclerosisPathogenesisDiseaseGenetic haplotypesStrong evidenceComprehensive reviewMyelin
2019
Siponimod Chips Away at Progressive MS
Longbrake EE, Hafler DA. Siponimod Chips Away at Progressive MS. Cell 2019, 179: 1440. PMID: 31951523, PMCID: PMC8023412, DOI: 10.1016/j.cell.2019.11.034.Peer-Reviewed Original ResearchConceptsProgressive multiple sclerosisGadolinium-enhancing MRI lesionsInflammatory disease activityImmunomodulatory medicationsDisability progressionDisease activityMRI lesionsProgressive MSNeurologic disabilityPMS patientsMultiple sclerosisSiponimodMedicationsSclerosisPatientsLesionsBedsideProgressionOcrelizumab treatment reduced levels of neurofilament light chain and numbers of B cells in the cerebrospinal fluid of patients with relapsing multiple sclerosis in the OBOE study (S56.008)
Cross A, Bennett J, von Büdingen H, Carruthers R, Edwards K, Fallis R, Fiore D, Gelfand J, Giacomini P, Greenberg B, Hafler D, Harp C, Assman B, Herman A, Ionete C, Kaunzner U, Lock C, Ma X, Musch B, Pardo G, Piehl F, Weber M, Ziemssen T, Bar-Or A. Ocrelizumab treatment reduced levels of neurofilament light chain and numbers of B cells in the cerebrospinal fluid of patients with relapsing multiple sclerosis in the OBOE study (S56.008). Neurology 2019, 92 DOI: 10.1212/wnl.92.15_supplement.s56.008.Peer-Reviewed Original ResearchMultiple sclerosis enters a grey area
Pappalardo JL, Hafler DA. Multiple sclerosis enters a grey area. Nature 2019, 566: 465-466. PMID: 30809050, DOI: 10.1038/d41586-019-00563-6.Peer-Reviewed Original ResearchCHAPTER 2 Genetics of Multiple Sclerosis
Abulaban A, Hafler D, Longbrake E. CHAPTER 2 Genetics of Multiple Sclerosis. 2019, 33-54. DOI: 10.1039/9781788016070-00033.ChaptersMultiple sclerosisCentral nervous systemImmune cell infiltratesComplex autoimmune diseaseEnvironmental risk factorsExtensive CNS demyelinationMS therapyAxonal damageCell infiltrateCNS demyelinationAutoimmune diseasesRisk factorsGenetic predispositionNervous systemDisease severityDiseaseSclerosisComplex genetic diseasesChapter 2 GeneticsGenetic diseasesDemyelinationInfiltratesAutoimmunityPathogenesisTherapy
2018
Chapter 46 Multiple sclerosis
Cotsapas C, Mitrovic M, Hafler D. Chapter 46 Multiple sclerosis. Handbook Of Clinical Neurology 2018, 148: 723-730. PMID: 29478610, DOI: 10.1016/b978-0-444-64076-5.00046-6.Peer-Reviewed Original ResearchConceptsMultiple sclerosisCentral nervous system white matterNervous system white matterAutoimmune neurologic disordersDisease-modifying therapiesImmune function modulationSpecific immune subsetsCentral nervous systemGenetic variantsImmune subsetsNeurologic symptomsAutoimmune attackLeading causeNeurologic disordersNervous systemWhite matterCommon genetic variantsOverall riskSclerosisYoung adultsEnvironmental exposuresRiskSymptomsDiseasePatients
2016
NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk
Consortium T, Antel J, Ban M, Baranzini S, Barcellos L, Barizzone N, Beecham A, Berge T, Bernardinelli L, Booth D, Bos S, Buck D, Butkiewicz M, Celius E, Comabella M, Compston A, Dedham K, Cotsapas C, Alfonso S, De Jager P, Dubois B, Duquette P, Fontaine B, Gasperi C, Gil E, Goris A, Gourraud P, Graetz C, Gyllenberg A, Hadjigeorgiou G, Hafler D, Hribko D, Haines J, Harbo H, Hauser S, Warto S, Hawkins C, Hemmer B, Henry R, Hintzen R, Horakova D, Ivinson A, Howard M, Jelcic I, Kaskow B, Kira J, Kleinova P, Kockum I, Kucerova K, Lill C, Luessi F, Malhotra S, Martin R, Martinelli F, Matsushita T, McCabe C, McCauley J, Mescheriakkova J, Mitrovic M, Moen S, Montalban X, Muhlau M, Nakmura Y, Oksenberg J, Olsson T, Oturai A, Palotie A, Patsopoulos N, Pavlicova J, Pericak-Vance P, Piehl F, Rebeix I, Rioux J, Saarela J, Sawcer S, Sellebjerg F, Sondergaard H, Sorensen P, Sospedra M, Spurkland A, Stewart G, Taylor B, Uitterlinden A, Van Duijn C, Zipp F. NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk. Neuron 2016, 92: 333-335. PMID: 27764667, PMCID: PMC5641967, DOI: 10.1016/j.neuron.2016.09.052.Peer-Reviewed Original ResearchConceptsPrimary progressive diseaseMultiple sclerosis riskProgressive diseaseMultiple sclerosisPatient's likelihoodDisease subtypesPatient collectionInsufficient sample sizeCommon variant associationsLow-frequency associationMendelian formsAssociationRecent studiesCertain individualsSample sizeVariant associationsSclerosisSubtypesDiseaseNeuronsMultiple sclerosis
Axisa PP, Hafler DA. Multiple sclerosis. Current Opinion In Neurology 2016, 29: 345-353. PMID: 27058221, PMCID: PMC7882195, DOI: 10.1097/wco.0000000000000319.Peer-Reviewed Original ResearchConceptsMultiple sclerosisGenome-wide association studiesAssociation studiesMultiple sclerosis (MS) etiologyMultiple sclerosis progressionMultiple sclerosis patientsHigh-throughput genetic analysisImmune cell functionNumerous candidate biomarkersWide association studyMechanisms of neurodegenerationImmunomodulatory treatmentSclerosis patientsClinical outcomesTreatment arsenalDisease progressionImmune regulationSclerosisNew biomarkersCandidate biomarkersPatient careGenetic variationGenetic analysisCell functionProgressionEvaluation of KIR4.1 as an Immune Target in Multiple Sclerosis
Chastre A, Hafler DA, O'Connor KC. Evaluation of KIR4.1 as an Immune Target in Multiple Sclerosis. New England Journal Of Medicine 2016, 374: 1495-1496. PMID: 27074083, PMCID: PMC4918464, DOI: 10.1056/nejmc1513302.Peer-Reviewed Original Research
2015
Biomarkers in multiple sclerosis
Housley WJ, Pitt D, Hafler DA. Biomarkers in multiple sclerosis. Clinical Immunology 2015, 161: 51-58. PMID: 26143623, DOI: 10.1016/j.clim.2015.06.015.Peer-Reviewed Original ResearchConceptsMultiple sclerosisB cell chemoattractant CXCL13Myelin-reactive T cellsMacrophage marker CD163Reactive T cellsMarkers of neurodegenerationKIR4.1 antibodiesMS seraClinical outcomesOligoclonal bandsYKL-40Disease progressionT cellsMS susceptibilityCerebrospinal fluidPotential biomarkersViral titersClinical useBiomarkersBiomarker researchSclerosisProgressionDisease diagnosisCD163CXCL13Immune Infiltrates Expressing Podoplanin (PDPN) are Present in Multiple Sclerosis but not Glioblastoma (S12.002)
Nylander A, Ramanan S, Debartolo D, Park C, Hafler D, Pitt D. Immune Infiltrates Expressing Podoplanin (PDPN) are Present in Multiple Sclerosis but not Glioblastoma (S12.002). Neurology 2015, 84 DOI: 10.1212/wnl.84.14_supplement.s12.002.Peer-Reviewed Original ResearchErratum: Multiple sclerosis—a quiet revolution
Ransohoff RM, Hafler DA, Lucchinetti CF. Erratum: Multiple sclerosis—a quiet revolution. Nature Reviews Neurology 2015, 11: 246-246. PMID: 25799926, DOI: 10.1038/nrneurol.2015.49.Peer-Reviewed Original ResearchMultiple sclerosis—a quiet revolution
Ransohoff RM, Hafler DA, Lucchinetti CF. Multiple sclerosis—a quiet revolution. Nature Reviews Neurology 2015, 11: 134-142. PMID: 25686758, PMCID: PMC4556342, DOI: 10.1038/nrneurol.2015.14.Peer-Reviewed Original ResearchConceptsTreatment optionsMajor unmet medical needMultiple sclerosis susceptibilityUnmet medical needNeural tissue injuryGenetic variantsMS therapeuticsAcetate therapyMS riskInflammatory aspectsMultiple sclerosisAutoimmune diseasesTreatable diseaseTissue injuryIndividual patientsDisease evolutionClinical phenotypeMedical needPatientsDisease susceptibilityDiseaseGenetic componentSclerosisIFNOptions
2014
Regulatory T cells in autoimmune neuroinflammation
Kleinewietfeld M, Hafler DA. Regulatory T cells in autoimmune neuroinflammation. Immunological Reviews 2014, 259: 231-244. PMID: 24712469, PMCID: PMC3990868, DOI: 10.1111/imr.12169.Peer-Reviewed Original ResearchConceptsRegulatory T cellsT cellsAutoimmune neuroinflammationMultiple sclerosisRegulatory type 1 (Tr1) cellsForkhead box protein 3Natural Treg cellsBox protein 3Experimental animal modelsT helper cell lineagesType 1 cellsTr1 cellsTreg cellsPeripheral toleranceAnimal modelsSpecific subtypesNeuroinflammationProtein 3SubtypesCell typesCell lineagesCellsTregsSclerosisMultiple Sclerosis and Acute Disseminated Encephalomyelitis: Immunology
Bailey M, Hafler D, Pelletier D. Multiple Sclerosis and Acute Disseminated Encephalomyelitis: Immunology. 2014, 144-147. DOI: 10.1016/b978-0-12-385157-4.00186-x.Peer-Reviewed Original ResearchAcute disseminated encephalomyelitisMultiple sclerosisDisseminated encephalomyelitisGray matter pathologyNormal-appearing white matterCommon neurological diseasesAdvanced imaging techniquesDemyelinating diseaseNeurological symptomsAxonal degenerationPathological hallmarkNeurological diseasesWhite matterYoung adultsMS geneticsEncephalomyelitisSclerosisDiseasePathologyImmunologyImaging techniquesRelapsingInflammationSymptomsDegenerationChapter 52 Multiple Sclerosis
Hernandez A, O’Connor K, Hafler D. Chapter 52 Multiple Sclerosis. 2014, 735-756. DOI: 10.1016/b978-0-12-384929-8.00052-6.ChaptersMultiple sclerosisT cellsCell subsetsInflammatory autoimmune diseaseRegulatory T cellsT cell subsetsCNS white matterB cell subsetsImmune dysregulationTh1 subsetAutoimmune diseasesHumoral responseDisease evolutionInfectious agentsGenetic susceptibility lociProgressive neurodegenerationWhite matterCurrent diseaseGenetic riskDiseasePotential roleSclerosisSusceptible hostsTherapyPutative role
2013
Protein array–based profiling of CSF identifies RBPJ as an autoantigen in multiple sclerosis
Querol L, Clark PL, Bailey MA, Cotsapas C, Cross AH, Hafler DA, Kleinstein SH, Lee JY, Yaari G, Willis SN, O'Connor KC. Protein array–based profiling of CSF identifies RBPJ as an autoantigen in multiple sclerosis. Neurology 2013, 81: 956-963. PMID: 23921886, PMCID: PMC3888197, DOI: 10.1212/wnl.0b013e3182a43b48.Peer-Reviewed Original ResearchConceptsCSF of patientsMultiple sclerosisNeurologic diseaseEpstein-Barr virus infectionImmunoglobulin GElevated immunoglobulin GInflammatory neurologic diseasesSubset of patientsLarger validation cohortRecombination signal binding proteinImmunoglobulin kappa J regionCSF autoantibodiesValidation cohortControl subjectsSerum reactivityAutoantigen candidatesHigh prevalenceVirus infectionPatientsAutoantibodiesCSFSclerosisArray-based profilingDiseaseELISAIncreased Frequencies of Myelin Reactive CCR6+ Pathogenic IL-17/GM-CSF/IFNγ Secreting CD4+ T Cells in Patients with Multiple Sclerosis (P03.225)
Cao Y, Raddassi K, Hafler D. Increased Frequencies of Myelin Reactive CCR6+ Pathogenic IL-17/GM-CSF/IFNγ Secreting CD4+ T Cells in Patients with Multiple Sclerosis (P03.225). Neurology 2013, 80 DOI: 10.1212/wnl.80.7_supplement.p03.225.Peer-Reviewed Original Research
2012
Erratum: Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonb therapy in multiple sclerosis
Vosslamber S, van der Voort L, van den Elskamp I, Heijmans R, Aubin C, Uitdehaag B, Crusius J, van der Pouw Kraan T, Comabella M, Montalban X, Hafler D, De Jager P, Killestein J, Polman C, Verweij C. Erratum: Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonb therapy in multiple sclerosis. Genes & Immunity 2012, 13: 443-443. DOI: 10.1038/gene.2012.18.Peer-Reviewed Original ResearchMultiple sclerosis
Nylander A, Hafler DA. Multiple sclerosis. Journal Of Clinical Investigation 2012, 122: 1180-1188. PMID: 22466660, PMCID: PMC3314452, DOI: 10.1172/jci58649.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAutoantigensAutoimmune DiseasesB-Lymphocyte SubsetsCostimulatory and Inhibitory T-Cell ReceptorsCytokinesForecastingForkhead Transcription FactorsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLymphocyte ActivationMeningesModels, ImmunologicalMultiple SclerosisT-Lymphocyte SubsetsT-Lymphocytes, RegulatoryConceptsMultiple sclerosisImmunopathology of MSMultifocal demyelinating diseasePersistence of antigenMS prognosisDemyelinating diseaseOligoclonal expansionAutoimmune responseLymphoid folliclesHumoral responseT cellsTreatment decisionsInfectious agentsSusceptible individualsProgressive neurodegenerationCommon genetic variantsPathway disruptionPresent recent dataSclerosisRecent dataDisease susceptibilityAntigenGenetic variantsImmunopathologyPrognosis