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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. Among authors: rider nl. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
Vargas-Hernández A, Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LR. Vargas-Hernández A, et al. Among authors: rider nl. J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27. J Allergy Clin Immunol. 2018. PMID: 29111217 Free PMC article.
Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome.
Ngwube A, Hanson IC, Orange J, Rider NL, Seeborg F, Shearer W, Noroski L, Nicholas S, Forbes L, Leung K, Sasa G, Naik S, Hegde M, Omer B, Ahmed N, Allen C, Gottschalk S, Wu MF, Liu H, Brenner M, Heslop H, Krance R, Martinez C. Ngwube A, et al. Among authors: rider nl. Biol Blood Marrow Transplant. 2018 Mar;24(3):537-541. doi: 10.1016/j.bbmt.2017.11.019. Epub 2017 Nov 28. Biol Blood Marrow Transplant. 2018. PMID: 29196075 Free article. Clinical Trial.
High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease.
Yanir AD, Hanson IC, Shearer WT, Noroski LM, Forbes LR, Seeborg FO, Nicholas S, Chinn I, Orange JS, Rider NL, Leung KS, Naik S, Carrum G, Sasa G, Hegde M, Omer BA, Ahmed N, Allen CE, Khaled Y, Wu MF, Liu H, Gottschalk SM, Heslop HE, Brenner MK, Krance RA, Martinez CA. Yanir AD, et al. Among authors: rider nl. Biol Blood Marrow Transplant. 2018 Aug;24(8):1643-1650. doi: 10.1016/j.bbmt.2018.03.029. Epub 2018 Apr 6. Biol Blood Marrow Transplant. 2018. PMID: 29630926 Free article.
69 results