Zobrazeno 1 - 8
of 8
pro vyhledávání: '"María Cecilia, Poli"'
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Type I interferonopathies cover a phenotypically heterogeneous group of rare genetic diseases including the recently described proteasome-associated autoinflammatory syndromes (PRAAS). By definition, PRAAS are caused by inherited and/or de novo loss-
Externí odkaz:
https://doaj.org/article/631b1f3c040e4c43902b125b965a59fa
Autor:
Valentina Discepolo, Meng Truong, Sayonara Mato, Andrea Lo Vecchio, Luigi D. Notarangelo, Yazmin Espinosa, Jane C. Burns, Ottavia M. Delmonte, Ugo Ramenghi, Camillo Rossi, Emma Rey, Peter D. Burbelo, Kerry Dobbs, Dana Gerstbacher, Daniela Montagna, Riccardo Castagnoli, Gina A. Montealegre Sanchez, Lesia K. Dropulic, Loreani P Noguera, Francesco Licciardi, Luisa Imberti, Helen C. Su, Maria Cecilia Vial, Adriana H. Tremoulet, John A. Chiorini, Amelia Licari, Blake M. Warner, Karyl S. Barron, Eli M Eisenstein, Jeffrey I. Cohen, Alfredo Guarino, Gian Luigi Marseglia, María Cecilia Poli, John T. Kanegaye, Chisato Shimizu
The autoantibody profile associated with known autoimmune diseases in patients with COVID-19 or multisystem inflammatory syndrome in children (MIS-C) remains poorly defined. Here we show that adults with COVID-19 had a moderate prevalence of autoanti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c4e14d9023d302dde2d3b28536660f0
https://doi.org/10.1101/2021.11.03.21265769
https://doi.org/10.1101/2021.11.03.21265769
Autor:
Valentina Discepolo, Marita Bosticardo, Sara Alehashemi, Jeffrey I. Cohen, Farzana Bhuyan, Luisa Imberti, Yu Zhang, Meng Truong, Alessandra Sottini, Francesca Pala, Sayonara Mato, Francesco Licciardi, John S. Tsang, Peter D. Burbelo, Kerry Dobbs, Ottavia M. Delmonte, Vasileios Oikonomou, Michael Stack, Gian Luigi Marseglia, Ugo Ramenghi, Raphaela Goldbach-Mansky, Dana Gerstbacher, Cihan Oguz, Adriana Almeida de Jesus, Maria Cecilia Vial, Brian Sellers, Danielle Fink, Ian M. Kaplan, Can Liu, Mikko S. Vakkilainen, Lindsey B. Rosen, Tyler Hulett, Michail S. Lionakis, Daniela Montagna, Helen C. Su, Luigi D. Notarangelo, Jinguo Chen, Riccardo Castagnoli, Svetlana Vakkilainen, Justin B. Lack, Elana Shaw, Gina A. Montealegre Sanchez, María Cecilia Poli, Clifton L. Dalgard, Aristine Cheng, Alfredo Guarino, Andrea Lo Vecchio, Thomas M. Snyder, Karyl S. Barron, Andrew L. Snow, Jefffrey J. Danielson, Keith Sacco, Douglas B. Kuhns, Emma Rey, Amelia Licari, Manor Askenazi, Steven M. Holland, Andrea Biondi, Eli M. Eisenstein, Mary Magliocco, Tomoki Kawai
Pediatric COVID-19 (pCOVID-19) is rarely severe, however a minority of SARS-CoV-2-infected children may develop MIS-C, a multisystem inflammatory syndrome with significant morbidity. In this longitudinal multi-institutional study, we used multi-omics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::652b9db3f0ba82e4d2ed241716a9ee59
https://doi.org/10.1101/2021.09.24.21263853
https://doi.org/10.1101/2021.09.24.21263853
Autor:
Macarena Tejos-Bravo, Luis F Venegas-Salas, G. V. Cardenas, Paola Casanello, María Cecilia Poli, Gabriela M. Repetto, Carolina Cabalín, Caroll Hernández, Carolina Iturriaga, Juan P Fraga, Boris Rebolledo, Arturo Borzutzky, Marcela Urzúa, Jose A. Castro-Rodriguez, Guillermo Perez-Mateluna
Publikováno v:
International journal of dermatologyReferences. 61(3)
Filaggrin (FLG) loss-of-function variants are major genetic risk factors for atopic dermatitis (AD), but these have not been studied in Latin American populations with and without AD.FLG variants R501X and 2282del4 were genotyped in 275 Chilean adult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32389db132640d11cc09401074aaff59
https://pubmed.ncbi.nlm.nih.gov/34480753
https://pubmed.ncbi.nlm.nih.gov/34480753
Autor:
María Cecilia Poli, Emma Rey-Jurado
Publikováno v:
Future Rare Diseases. 1
Inborn errors of immunity are genetic defects of the immune system, causing increased susceptibility to infection, autoinflammation, autoimmunity and immune dysregulation. Next-generation sequencing has enabled exponential identification of novel inb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11e960bf6d1a6f195111f36dcd81f0f7
https://doi.org/10.2217/frd-2020-0003
https://doi.org/10.2217/frd-2020-0003
[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period]
Autor:
Rodrigo, Hoyos-Bachiloglu, Jorge, Rojas, Arturo, Borzutzky, Pamela, Hernández, Ana María, Vinet, Paula, Bustos, Fabiola, Fernández, Macarena, Lagos, Alexis, Strickler, María Angélica, Marinovic, Cristina, Casado, María Cecilia, Poli, Alejandra, King
Publikováno v:
Revista chilena de pediatria. 91(6)
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency. To date, there is little local information about this disease.To describe the epidemiology, complications, prognosis, and use of the BCG vaccine in Chilean p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f442a365f4ea9b6fa7685b30778d6cf7
https://pubmed.ncbi.nlm.nih.gov/33861827
https://pubmed.ncbi.nlm.nih.gov/33861827
Autor:
Federico José Saracho Weber, Juan Carlos Aldave Becerra, Víctor Manuel Hernández Bautista, Tamara Staines Boone, Agustín De Colsa Ranero, Marco Antonio Yamazaki Nakashimada, Sara Espinosa Padilla, Francisco Rivas Larrauri, Alejandra King, Aristoteles Alvarez Cardona, Matías Oleastro, Diana Cabanillas, Saul Oswaldo Lugo Reyes, Beatriz Tavares Costa-Carvalho, Francisco Javier Espinosa Rosales, Gabriele Ivankovich Escoto, Nideshda Ramirez Uribe, Oscar Porras, Alonso Gutiérrez Hernández, Juliana Folloni Fernandes, Anete Sevciovic Grumach, Héctor Gómez Tello, Sarbelio Moreno Espinosa, Juan Carlos Bustamante Ogando, Lorean Regairaz, Liliana Bezrodnik, María Cecilia Poli Harlowe, Lizbeth Blancas Galicia, Antonio Condino-Neto, Juliana Themudo Lessa Mazzucchelli, Francisco Javier Otero Mendoza, Beatriz Adriana Llamas Guillén, Arturo Borzutzky, Armando Partida Gaytán, Jorge Alberto García Campos, María Edith González Serrano
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Severe combined immunodeficiency (SCID) represents the most lethal form of primary immunodeficiency, with mortality rates of greater than 90% within the first year of life without treatment. Hematopoietic stem cell transplantation and gene therapy ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76003965c3e5b2eaef02e286d737399b
Autor:
María Angélica Marinovic, Cristina Casado, Fabiola Fernández, María Cecilia Poli, Pamela Guerra Hernández, Arturo Borzutzky, Rodrigo Hoyos-Bachiloglu, Paula Bustos, Alejandra King, Alexis Strickler, Macarena Lagos, Jorge Rojas, Ana Maria Vinet
Publikováno v:
Revista chilena de pediatría v.91 n.6 2020
SciELO Chile
CONICYT Chile
instacron:CONICYT
SciELO Chile
CONICYT Chile
instacron:CONICYT
Resumen: Introducción: La inmunodeficiencia combinada severa (IDCS) corresponde a una de las formas más graves de inmunodeficiencia primaria, existiendo escasos datos nacionales sobre ésta. Objetivo: describir la epidemiología, complicaciones, pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04247681373715d51ca6fb18a2885344
https://doi.org/10.32641/andespediatr.v91i6.2580
https://doi.org/10.32641/andespediatr.v91i6.2580