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Page 1
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA. Similuk MN, et al. Among authors: dropulic l. J Allergy Clin Immunol. 2022 Oct;150(4):947-954. doi: 10.1016/j.jaci.2022.06.009. Epub 2022 Jun 24. J Allergy Clin Immunol. 2022. PMID: 35753512 Free PMC article. Review.
Severe viral infections and primary immunodeficiencies.
Dropulic LK, Cohen JI. Dropulic LK, et al. Clin Infect Dis. 2011 Nov;53(9):897-909. doi: 10.1093/cid/cir610. Epub 2011 Sep 29. Clin Infect Dis. 2011. PMID: 21960712 Free PMC article. Review.
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
Mace EM, Hsu AP, Monaco-Shawver L, Makedonas G, Rosen JB, Dropulic L, Cohen JI, Frenkel EP, Bagwell JC, Sullivan JL, Biron CA, Spalding C, Zerbe CS, Uzel G, Holland SM, Orange JS. Mace EM, et al. Among authors: dropulic l. Blood. 2013 Apr 4;121(14):2669-77. doi: 10.1182/blood-2012-09-453969. Epub 2013 Jan 30. Blood. 2013. PMID: 23365458 Free PMC article.
Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways.
Howe MK, Dowdell K, Kuehn HS, Li Q, Hart GT, Garabedian D, Liepshutz K, Hsu AP, Su H, Niemela JE, Stoddard JL, Uzel G, Shereck E, Schulz L, Feldman T, Rosenzweig SD, Long EO, Dropulic L, Cohen JI. Howe MK, et al. Among authors: dropulic l. J Infect Dis. 2020 Sep 1;222(7):1170-1179. doi: 10.1093/infdis/jiaa232. J Infect Dis. 2020. PMID: 32386415 Free PMC article.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD. Delmonte OM, et al. Blood. 2021 Sep 23;138(12):1019-1033. doi: 10.1182/blood.2020008629. Blood. 2021. PMID: 33876203 Free PMC article. Clinical Trial.
Autoantibodies Against Proteins Previously Associated With Autoimmunity in Adult and Pediatric Patients With COVID-19 and Children With MIS-C.
Burbelo PD, Castagnoli R, Shimizu C, Delmonte OM, Dobbs K, Discepolo V, Lo Vecchio A, Guarino A, Licciardi F, Ramenghi U, Rey-Jurado E, Vial C, Marseglia GL, Licari A, Montagna D, Rossi C, Montealegre Sanchez GA, Barron K, Warner BM, Chiorini JA, Espinosa Y, Noguera L, Dropulic L, Truong M, Gerstbacher D, Mató S, Kanegaye J, Tremoulet AH; Pediatric Emergency Medicine Kawasaki Group; Eisenstein EM, Su HC, Imberti L, Poli MC, Burns JC, Notarangelo LD, Cohen JI. Burbelo PD, et al. Among authors: dropulic l. Front Immunol. 2022 Mar 11;13:841126. doi: 10.3389/fimmu.2022.841126. eCollection 2022. Front Immunol. 2022. PMID: 35360001 Free PMC article.
36 results