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Page 1
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE. Chinn IK, et al. Blood. 2018 Jul 5;132(1):89-100. doi: 10.1182/blood-2017-11-814244. Epub 2018 Apr 9. Blood. 2018. PMID: 29632024 Free PMC article. Clinical Trial.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
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. 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.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK. Forbes LR, et al. Among authors: aldave becerra jc. J Allergy Clin Immunol. 2022 Feb;149(2):758-766. doi: 10.1016/j.jaci.2021.07.015. Epub 2021 Jul 28. J Allergy Clin Immunol. 2022. PMID: 34329649 Free PMC article.
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Conte MI, et al. Among authors: aldave becerra jc. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948. JCI Insight. 2022. PMID: 36345943 Free PMC article.
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC; PLCG2-Immune Dysregulation Working Group; Mace E, Milner JD, Ombrello MJ. Baysac K, et al. J Allergy Clin Immunol. 2024 Jan;153(1):230-242. doi: 10.1016/j.jaci.2023.08.036. Epub 2023 Sep 26. J Allergy Clin Immunol. 2024. PMID: 37769878 Free PMC article.
Latin American consensus on the supportive management of patients with severe combined immunodeficiency.
Bustamante Ogando JC, Partida Gaytán A, Aldave Becerra JC, Álvarez Cardona A, Bezrodnik L, Borzutzky A, Blancas Galicia L, Cabanillas D, Condino-Neto A, De Colsa Ranero A, Espinosa Padilla S, Fernandes JF, García Campos JA, Gómez Tello H, González Serrano ME, Gutiérrez Hernández A, Hernández Bautista VM, Ivankovich Escoto G, King A, Lessa Mazzucchelli J, Llamas Guillén BA, Lugo Reyes SO, Moreno Espinosa S, Oleastro M, Otero Mendoza F, Poli Harlowe MC, Porras O, Ramirez Uribe N, Regairaz L, Rivas Larrauri F, Saracho Weber FJ, Grumach AS, Staines Boone T, Tavares Costa-Carvalho B, Yamazaki Nakashimada MA, Espinosa Rosales FJ. Bustamante Ogando JC, et al. Among authors: aldave becerra jc. J Allergy Clin Immunol. 2019 Oct;144(4):897-905. doi: 10.1016/j.jaci.2019.08.002. Epub 2019 Aug 13. J Allergy Clin Immunol. 2019. PMID: 31419546
All together to Fight COVID-19.
Momtazmanesh S, Ochs HD, Uddin LQ, Perc M, Routes JM, Vieira DN, Al-Herz W, Baris S, Prando C, Rosivall L, Abdul Latiff AH, Ulrichs T, Roudenok V, Aldave Becerra JC, Salunke DB, Goudouris E, Condino-Neto A, Stashchak A, Kryvenko O, Stashchak M, Bondarenko A, Rezaei N. Momtazmanesh S, et al. Among authors: aldave becerra jc. Am J Trop Med Hyg. 2020 Jun;102(6):1181-1183. doi: 10.4269/ajtmh.20-0281. Am J Trop Med Hyg. 2020. PMID: 32323644 Free PMC article.
Diagnosis of primary immunodeficiencies in Peru.
Aldave-Becerra JC, Veramendi-Espinoza LE, Rentería-Valdiviezo CA. Aldave-Becerra JC, et al. Curr Opin Pediatr. 2020 Dec;32(6):798-804. doi: 10.1097/MOP.0000000000000964. Curr Opin Pediatr. 2020. PMID: 33148966 Review.
18 results