2023
Locus for severity implicates CNS resilience in progression of multiple sclerosis
Harroud A, Stridh P, McCauley J, Saarela J, van den Bosch A, Engelenburg H, Beecham A, Alfredsson L, Alikhani K, Amezcua L, Andlauer T, Ban M, Barcellos L, Barizzone N, Berge T, Berthele A, Bittner S, Bos S, Briggs F, Caillier S, Calabresi P, Caputo D, Carmona-Burgos D, Cavalla P, Celius E, Cerono G, Chinea A, Chitnis T, Clarelli F, Comabella M, Comi G, Cotsapas C, Cree B, D’Alfonso S, Dardiotis E, De Jager P, Delgado S, Dubois B, Engel S, Esposito F, Fabis-Pedrini M, Filippi M, Fitzgerald K, Gasperi C, Gomez L, Gomez R, Hadjigeorgiou G, Hamann J, Held F, Henry R, Hillert J, Huang J, Huitinga I, Islam T, Isobe N, Jagodic M, Kermode A, Khalil M, Kilpatrick T, Konidari I, Kreft K, Lechner-Scott J, Leone M, Luessi F, Malhotra S, Manouchehrinia A, Manrique C, Martinelli-Boneschi F, Martinez A, Martinez-Maldonado V, Mascia E, Metz L, Midaglia L, Montalban X, Oksenberg J, Olsson T, Oturai A, Pääkkönen K, Parnell G, Patsopoulos N, Pericak-Vance M, Piehl F, Rubio J, Santaniello A, Santoro S, Schaefer C, Sellebjerg F, Shams H, Shchetynsky K, Silva C, Siokas V, Søndergaard H, Sorosina M, Taylor B, Vandebergh M, Vasileiou E, Vecchio D, Voortman M, Weiner H, Wever D, Yong V, Hafler D, Stewart G, Compston A, Zipp F, Harbo H, Hemmer B, Goris A, Smolders J, Hauser S, Kockum I, Sawcer S, Baranzini S, Harroud A, Jónsdóttir I, Blanco Y, Llufriu S, Madireddy L, Saiz A, Villoslada P, Stefánsson K. Locus for severity implicates CNS resilience in progression of multiple sclerosis. Nature 2023, 619: 323-331. PMID: 37380766, PMCID: PMC10602210, DOI: 10.1038/s41586-023-06250-x.Peer-Reviewed Original ResearchConceptsCentral nervous systemMultiple sclerosisAge-related MS severity scoreMS severity scoreProgression of multiple sclerosisCentral nervous system tissueChronic neurological disabilityPotential protective roleMedian timeAutoimmune diseasesHomozygous carriersIncreased brainstemSeverity scoreNeurological disabilityRisk allelesNervous systemGenome-wide association studiesCortical pathologyProtective roleBrain tissuePotential mechanismsSclerosisMendelian randomization analysisNeurocognitive reserveHeritability enrichment
2009
The role of the CD58 locus in multiple sclerosis
De Jager PL, Baecher-Allan C, Maier LM, Arthur AT, Ottoboni L, Barcellos L, McCauley JL, Sawcer S, Goris A, Saarela J, Yelensky R, Price A, Leppa V, Patterson N, de Bakker PI, Tran D, Aubin C, Pobywajlo S, Rossin E, Hu X, Ashley CW, Choy E, Rioux JD, Pericak-Vance MA, Ivinson A, Booth DR, Stewart GJ, Palotie A, Peltonen L, Dubois B, Haines JL, Weiner HL, Compston A, Hauser SL, Daly MJ, Reich D, Oksenberg JR, Hafler DA. The role of the CD58 locus in multiple sclerosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 106: 5264-5269. PMID: 19237575, PMCID: PMC2664005, DOI: 10.1073/pnas.0813310106.Peer-Reviewed Original ResearchConceptsMultiple sclerosisMS subjectsMononuclear cellsCD58 expressionProtective effectMRNA expressionPeripheral blood mononuclear cellsRegulatory T cellsBlood mononuclear cellsTranscription factor Foxp3Dose-dependent increaseCentral nervous systemLymphoblastic cell linesClinical remissionAxonal lossControl subjectsInflammatory diseasesFactor Foxp3T cellsWhole-genome association scansLFA-3Nervous systemProtective allelesPotential mechanismsSclerosis
1987
Secondary immune amplification following live poliovirus immunization in humans
Hafler D, Fox D, Benjamin D, Blue M, Weiner H. Secondary immune amplification following live poliovirus immunization in humans. Clinical Immunology 1987, 44: 321-328. PMID: 3040309, DOI: 10.1016/0090-1229(87)90076-6.Peer-Reviewed Original ResearchConceptsAutologous mixed lymphocyte responseRecall antigensAnamnestic responseImmune amplificationImmune responseHuman T cell responsesT cell proliferative responsesLive virus infectionT cell responsesMixed lymphocyte responseSecondary immune responsePoliovirus immunizationLymphocyte responsesVirus infectionProliferative responsePoliovirus infectionAntigenPotential mechanismsAmplification pathwayConsistent changesImmunizationInfectionPoliovirusSubjectsResponse