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Page 1
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: trujillo vargas cm. 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.
Critical issues and needs in management of primary immunodeficiency diseases in Latin America.
Condino-Neto A, Franco JL, Trujillo-Vargas C, Espinosa-Rosales FJ, Leiva LE, Rodriguez-Quiroz F, King A, Lagos M, Oleastro M, Bezrodnik L, Grumach AS, Costa-Carvalho BT, Sorensen RU. Condino-Neto A, et al. Allergol Immunopathol (Madr). 2011 Jan-Feb;39(1):45-51. doi: 10.1016/j.aller.2010.09.001. Epub 2010 Dec 16. Allergol Immunopathol (Madr). 2011. PMID: 21167629
A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.
Romero CA, Sánchez IP, Gutierrez-Hincapié S, Álvarez-Álvarez JA, Pereañez JA, Ochoa R, Muskus-López CE, Eraso RG, Echeverry C, Arango C, Restrepo JL, Trujillo-Vargas CM. Romero CA, et al. Among authors: trujillo vargas cm. J Clin Immunol. 2015 Jul;35(5):501-11. doi: 10.1007/s10875-015-0169-x. Epub 2015 May 15. J Clin Immunol. 2015. PMID: 25975970
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. Somekh I, et al. Among authors: trujillo vargas cm. Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644. Blood. 2019. PMID: 31501153 Free PMC article.
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ. Ravell JC, et al. Among authors: trujillo vargas cm. J Clin Invest. 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116. J Clin Invest. 2020. PMID: 31714901 Free PMC article.
Application of the diagnostic criteria for Common Variable Immunodeficiency in resource-limited settings.
Álvarez-Álvarez JA, Duque AG, Vásquez-Echeverri E, Sánchez IP, Hincapié SG, Gómez-Arias RD, Arango JCO, Franco JL, Trujillo-Vargas CM. Álvarez-Álvarez JA, et al. Among authors: trujillo vargas cm. Allergol Immunopathol (Madr). 2022 Jul 1;50(4):129-136. doi: 10.15586/aei.v50i4.496. eCollection 2022. Allergol Immunopathol (Madr). 2022. PMID: 35789412
Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.
Sánchez IP, Leal-Esteban LC, Álvarez-Álvarez JA, Pérez-Romero CA, Orrego JC, Serna ML, Coll Y, Caicedo Y, Pardo-Díaz E, Zimmer J, Bleesing JJ, Franco JL, Trujillo-Vargas CM. Sánchez IP, et al. Among authors: trujillo vargas cm. J Clin Immunol. 2012 Aug;32(4):670-80. doi: 10.1007/s10875-012-9680-5. Epub 2012 Mar 22. J Clin Immunol. 2012. PMID: 22437823
37 results