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Page 1
Multiomics integration of 22 immune-mediated monogenic diseases reveals an emergent axis of human immune health.
Sparks R, Rachmaninoff N, Hirsch DC, Bansal N, Lau WW, Martins AJ, Chen J, Liu CC, Cheung F, Failla LE, Biancotto A, Fantoni G, Sellers BA, Chawla DG, Howe KN, Mostaghimi D, Farmer R, Kotliarov Y, Calvo KR, Palmer C, Daub J, Foruraghi L, Kreuzburg S, Treat J, Urban AK, Jones A, Romeo T, Deuitch NT, Moura NS, Weinstein B, Moir S, Ferrucci L, Barron KS, Aksentijevich I, Kleinstein SH, Townsley DM, Young NS, Frischmeyer-Guerrerio PA, Uzel G, Pinto-Patarroyo GP, Cudrici CD, Hoffmann P, Stone DL, Ombrello AK, Freeman AF, Zerbe CS, Kastner DL, Holland SM, Tsang JS. Sparks R, et al. Among authors: moir s. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2070975. doi: 10.21203/rs.3.rs-2070975/v1. Res Sq. 2023. PMID: 36993430 Free PMC article. Preprint.
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. Ombrello MJ, et al. Among authors: moir s. N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan 11. N Engl J Med. 2012. PMID: 22236196 Free PMC article.
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: moir s. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000145 Free PMC article.
Activated STING in a vascular and pulmonary syndrome.
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R. Liu Y, et al. Among authors: moir s. N Engl J Med. 2014 Aug 7;371(6):507-518. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16. N Engl J Med. 2014. PMID: 25029335 Free PMC article.
Bone marrow plasma cells are a primary source of serum HIV-1-specific antibodies in chronically infected individuals.
Montezuma-Rusca JM, Moir S, Kardava L, Buckner CM, Louie A, Kim LJ, Santich BH, Wang W, Fankuchen OR, Diaz G, Daub JR, Rosenzweig SD, Chun TW, Li Y, Braylan RC, Calvo KR, Fauci AS. Montezuma-Rusca JM, et al. Among authors: moir s. J Immunol. 2015 Mar 15;194(6):2561-8. doi: 10.4049/jimmunol.1402424. Epub 2015 Feb 13. J Immunol. 2015. PMID: 25681347 Free PMC article.
Impaired B cell immunity in acute myeloid leukemia patients after chemotherapy.
Goswami M, Prince G, Biancotto A, Moir S, Kardava L, Santich BH, Cheung F, Kotliarov Y, Chen J, Shi R, Zhou H, Golding H, Manischewitz J, King L, Kunz LM, Noonan K, Borrello IM, Smith BD, Hourigan CS. Goswami M, et al. Among authors: moir s. J Transl Med. 2017 Jul 10;15(1):155. doi: 10.1186/s12967-017-1252-2. J Transl Med. 2017. PMID: 28693586 Free PMC article.
Overexpression of T-bet in HIV infection is associated with accumulation of B cells outside germinal centers and poor affinity maturation.
Austin JW, Buckner CM, Kardava L, Wang W, Zhang X, Melson VA, Swanson RG, Martins AJ, Zhou JQ, Hoehn KB, Fisk JN, Dimopoulos Y, Chassiakos A, O'Dell S, Smelkinson MG, Seamon CA, Kwan RW, Sneller MC, Pittaluga S, Doria-Rose NA, McDermott A, Li Y, Chun TW, Kleinstein SH, Tsang JS, Petrovas C, Moir S. Austin JW, et al. Among authors: moir s. Sci Transl Med. 2019 Nov 27;11(520):eaax0904. doi: 10.1126/scitranslmed.aax0904. Sci Transl Med. 2019. PMID: 31776286 Free PMC article.
Broad immune activation underlies shared set point signatures for vaccine responsiveness in healthy individuals and disease activity in patients with lupus.
Kotliarov Y, Sparks R, Martins AJ, Mulè MP, Lu Y, Goswami M, Kardava L, Banchereau R, Pascual V, Biancotto A, Chen J, Schwartzberg PL, Bansal N, Liu CC, Cheung F, Moir S, Tsang JS. Kotliarov Y, et al. Among authors: moir s. Nat Med. 2020 Apr;26(4):618-629. doi: 10.1038/s41591-020-0769-8. Epub 2020 Feb 24. Nat Med. 2020. PMID: 32094927 Free PMC article.
203 results