Next generation sequencing identifies mutations in Colombian patients with primary immunodeficiency diseases

Autor: Carlos Andrés Arango-Franco, Marcela Moncada-Vélez, Alexander Franco-Gallego, Lucía Victoria Erazo, Catalina Martínez, Sebastián Gutiérrez, Jesús Armando Álvarez, Manuela Molina, Diana Arboleda, Laura Naranjo, Juan Álvaro López, Juan Fernando Alzate, Felipe Cabarcas, Claudia Milena Trujillo-Vargas, Julio César Orrego, Satoshi Okada, Anne Puel, Jacinta Bustamante, Jean-Laurent Casanova, Andrés Augusto Arias, José Luis Franco

Publikováno v: Revista Alergia México, Vol 65 suppl 1, Pp 129-130 (2018)

Background: The genetic etiology of several primary immunodeficiency diseases (PID) remains elusive. Next generation technologies represent a cost-effective and rapid first-line genetic approach for the evaluation of diseases underlying mendelian tra

Externí odkaz: https://doaj.org/article/c28dca86cd9a48b3acdcaca2d8e8606a

The expansion of human T-bet(high)CD21(low) B cells is T cell dependent

Autor: Horst von Bernuth, Bella Shadur, Klaus Warnatz, Jing-Ya Ding, Uwe Kölsch, Claudia M. Trujillo-Vargas, Petra Kaiser-Labusch, Ana Garcia Garcia, Cheng-Lung Ku, Hermann Eibel, Melanie Boerries, Polina Stepensky, Marta Rizzi, Natalie Frede, Stephan Ehl, Claudia Bossen, Sergio D. Rosenzweig, Laia Alsina, Peter Tobias Felixberger, Baerbel Keller, Roland Elling, Geoffroy Andrieux, Kimberly Gilmour, Satoshi Okada, Anne Rensing-Ehl, Marjolein Wentink, Ulrich Salzer, Carsten Speckmann, Cindy S. Ma, Alexandra Nieters, Paul Gray, Heiko Becker, Tadej Avcin, Vladimir Benes, Bodo Grimbacher, Florian Gothe, Gulbu Uzel, Susanne Usadel, Hye Sun Kuehn, Julia Vasconcelos, Gašper Markelj, Mirjam van der Burg, Jean-Laurent Casanova, Claire Fieschi, José Luis Franco, Lucía Victoria Erazo-Borrás, Susanne Unger, Alexandru Vlagea, Ina Hainmann, Ina Harder, Stuart G. Tangye, Elizabeth Ralph, Kathryn Payne, Reinhard E. Voll, Jonathan J. M. Landry, Valentina Strohmeier, Jens Thiel, Danielle T. Avery, Margarida Guedes, Sophie Hambleton, Nils Venhoff, Manfred Fliegauf

Publikováno v: Science immunology, 6(64):eabh0891. American Association for the Advancement of Science
Science Immunology, 6(64). AMER ASSOC ADVANCEMENT SCIENCE

Accumulation of human CD21low B cells in peripheral blood is a hallmark of chronic activation of the adaptive immune system in certain infections and autoimmune disorders. The molecular pathways underpinning the development, function, and fate of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eee83a6a43d89de2cd85bf7df750c036
https://hdl.handle.net/1887/3264161

Linfocitos NKT invariantes: ontogenia, fenotipo y función

Autor: Lucía Victoria Erazo-Borrás, Claudia M. Trujillo-Vargas, Jesús A. Álvarez-Álvarez

Publikováno v: Inmunología. 33:51-59

Resumen Las celulas NKT invariantes (NKTi) fueron identificadas inicialmente por presentar caracteristicas similares a las celulas T y NK. Actualmente se han definido como linfocitos T con caracteristicas unicas, desde su seleccion y diferenciacion e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c0358bfb8739e660ca519d73cd46195
https://doi.org/10.1016/j.inmuno.2014.01.004

Exome sequencing reveals gain-offunction mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients.

Autor: Moncada-Vélez, Marcela¹, Erazo-Borrás, Lucía Victoria¹ lucia.erazo@udea.edu.co, Álvarez-lvarez, Jesús Armando¹, Arango, Carlos Andrés¹, Miyuki Tsumura², Satoshi Okada², Osorio, Sara Daniela¹, Castro, Lorena¹, González, Natalia³, Arango, Catalina⁴, Orrego, Julio César¹, Riaño, Lina¹, Alzate, Juan Fernando⁵, Cabarcas, Felipe^5,6, Casanova, Jean-Laurent^7,8,9,10, Bustamante, Jacinta^7,8,11, Puel, Anne^7,8, Arias, Andrés Augusto^1,12, Franco, José Luis¹

Publikováno v: Revista Alergia de Mexico. 2018 Supplement, Vol. 65, p114-115. 2p.