2018
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk
Consortium I, Mitrovič M, Patsopoulos N, Beecham A, Dankowski T, Goris A, Dubois B, D’hooghe M, Lemmens R, Van Damme P, Søndergaard H, Sellebjerg F, Sorensen P, Ullum H, Thørner L, Werge T, Saarela J, Cournu-Rebeix I, Damotte V, Fontaine B, Guillot-Noel L, Lathrop M, Vukusik S, Gourraud P, Andlauer T, Pongratz V, Buck D, Gasperi C, Bayas A, Heesen C, Kümpfel T, Linker R, Paul F, Stangel M, Tackenberg B, Bergh F, Warnke C, Wiendl H, Wildemann B, Zettl U, Ziemann U, Tumani H, Gold R, Grummel V, Hemmer B, Knier B, Lill C, Luessi F, Dardiotis E, Agliardi C, Barizzone N, Mascia E, Bernardinelli L, Comi G, Cusi D, Esposito F, Ferrè L, Comi C, Galimberti D, Leone M, Sorosina M, Mescheriakova J, Hintzen R, van Duijn C, Theunissen C, Bos S, Myhr K, Celius E, Lie B, Spurkland A, Comabella M, Montalban X, Alfredsson L, Stridh P, Hillert J, Jagodic M, Piehl F, Jelčić I, Martin R, Sospedra M, Ban M, Hawkins C, Hysi P, Kalra S, Karpe F, Khadake J, Lachance G, Neville M, Santaniello A, Caillier S, Calabresi P, Cree B, Cross A, Davis M, Haines J, de Bakker P, Delgado S, Dembele M, Edwards K, Fitzgerald K, Hakonarson H, Konidari I, Lathi E, Manrique C, Pericak-Vance M, Piccio L, Schaefer C, McCabe C, Weiner H, Goldstein J, Olsson T, Hadjigeorgiou G, Taylor B, Tajouri L, Charlesworth J, Booth D, Harbo H, Ivinson A, Hauser S, Compston A, Stewart G, Zipp F, Barcellos L, Baranzini S, Martinelli-Boneschi F, D’Alfonso S, Ziegler A, Oturai A, McCauley J, Sawcer S, Oksenberg J, De Jager P, Kockum I, Hafler D, Cotsapas C. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk. Cell 2018, 175: 1679-1687.e7. PMID: 30343897, PMCID: PMC6269166, DOI: 10.1016/j.cell.2018.09.049.Peer-Reviewed Original ResearchConceptsRare coding variationsGenome-wide association studiesNon-coding variationCommon variant signalsSubstantial linkage disequilibriumLow-frequency variantsNovel genesCell homeostasisAssociation studiesComplex neurological diseasesLinkage disequilibriumGenetic variantsCommon variantsHeritabilityRich resourceGenesVariantsKey pathogenic roleIndividual familiesEpistasisAdditive effectBiologyHomeostasisMutationsNeurological diseases
2014
Systems Immunology Reveals Markers of Susceptibility to West Nile Virus Infection
Qian F, Goel G, Meng H, Wang X, You F, Devine L, Raddassi K, Garcia MN, Murray KO, Bolen CR, Gaujoux R, Shen-Orr SS, Hafler D, Fikrig E, Xavier R, Kleinstein SH, Montgomery RR. Systems Immunology Reveals Markers of Susceptibility to West Nile Virus Infection. MSphere 2014, 22: 6-16. PMID: 25355795, PMCID: PMC4278927, DOI: 10.1128/cvi.00508-14.Peer-Reviewed Original ResearchConceptsWest Nile virus infectionVirus infectionMyeloid dendritic cellsMarker of susceptibilityPotential therapeutic strategySeverity of infectionSevere neurological diseaseOlder patientsAcute infectionDendritic cellsCXCL10 expressionDetectable yearsImmunity-related genesStratified cohortWNV infectionTherapeutic strategiesPathogenic mechanismsAnimal studiesNeurological diseasesDisease severityVivo infectionPredictive signatureInfectionProminent alterationsPrimary cellsMultiple 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 techniquesRelapsingInflammationSymptomsDegeneration
1991
Common T‐cell receptor Vβ usage in oligoclonal T lymphocytes derived from cerebrospinal fluid and blood of patients with multiple sclerosis
Lee S, Wucherpfennig K, Brod S, Benjamin D, Weiner H, Hafler D. Common T‐cell receptor Vβ usage in oligoclonal T lymphocytes derived from cerebrospinal fluid and blood of patients with multiple sclerosis. Annals Of Neurology 1991, 29: 33-40. PMID: 1847614, DOI: 10.1002/ana.410290109.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedBase SequenceBlotting, SouthernChild, PreschoolClone CellsDNA ProbesFemaleGene Rearrangement, beta-Chain T-Cell Antigen ReceptorGene Rearrangement, gamma-Chain T-Cell Antigen ReceptorHumansMaleMiddle AgedMolecular Sequence DataMultiple SclerosisPhenotypePolymerase Chain ReactionT-LymphocytesConceptsT cell populationsT cell clonesCerebrospinal fluidMultiple sclerosisT cellsT cell receptor Vβ usageNeurological diseasesOligoclonal T-cell populationsT cell receptor V beta genesOligoclonal T lymphocytesOligoclonal T cellsSame T cell receptorBlood of patientsNormal control subjectsT cell receptor beta chainProgenitor T cellsT cell receptorIndividual T cellsGamma chain geneImmune compartmentVβ usageControl subjectsReceptor beta chainT lymphocytesPatients
1990
T-cell recognition of an immuno-dominant myelin basic protein epitope in multiple sclerosis
Ota K, Matsui M, Milford E, Mackin G, Weiner H, Hafler D. T-cell recognition of an immuno-dominant myelin basic protein epitope in multiple sclerosis. Nature 1990, 346: 183-187. PMID: 1694970, DOI: 10.1038/346183a0.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAntigen-Presenting CellsApoproteinsAutoantigensCells, CulturedEpitopesHLA-DR AntigensHumansIn Vitro TechniquesMajor Histocompatibility ComplexMolecular Sequence DataMultiple SclerosisMyelin Basic ProteinMyelin ProteinsMyelin Proteolipid ProteinPeptide FragmentsT-LymphocytesConceptsMultiple sclerosis patientsT cell linesMyelin basic proteinMultiple sclerosisSclerosis patientsT cellsVivo-activated T cellsShort-term T cell linesMyelin basic protein epitopeBasic proteinExperimental autoimmune encephalomyelitisDifferent T-cell linesCentral nervous systemMultiple sclerosis subjectsT cell recognitionT cell specificityAutoimmune encephalomyelitisImmune involvementAutoimmune diseasesPotential autoantigensNormal controlsNervous systemNeurological diseasesSclerosisPatients
1988
Loss of functional suppression is linked to decreases in circulating suppressor inducer (CD4 + 2H4 +) T Cells in multiple sclerosis
Chofflon M, Weiner H, Morimoto C, Hafler D. Loss of functional suppression is linked to decreases in circulating suppressor inducer (CD4 + 2H4 +) T Cells in multiple sclerosis. Annals Of Neurology 1988, 24: 185-191. PMID: 2972249, DOI: 10.1002/ana.410240203.Peer-Reviewed Original ResearchConceptsSuppressor-inducer T cellsProgressive multiple sclerosisInducer T cellsSuppressor T cellsMultiple sclerosisT cellsFunctional suppressionTwo-color immunofluorescenceImmunoregulatory abnormalitiesImmunological findingsIgG synthesisMononuclear cellsPokeweed mitogenImmunoglobulin synthesisNormal subjectsSclerosisCD4Neurological diseasesAMLRPatientsTwo-stage assaySuppressor functionSignificant correlationPresent studyCells