Características clínicas y de laboratorio en una cohorte de pacientes con ataxia telangiectasia en el Grupo de Inmunodeficiencias Primarias de la Universidad de Antioquía

by Lina Rocío Riaño, Jesús Armando Álvarez, Julio César Orrego, Dagoberto Cabrera, Carolina Gómez, Héctor Valderrama, Alexandra Sierra, Derly Carolina Hernández, José Luis Franco
Published 2018-06-01

Novel mutations in NCF4 gene confer non-classic chronic granulomatous disease with disseminated histoplasmosis in a Colombian child

by Carlos Andrés Arango-Franco, Alejandro Nieto-Patlán, Marcela Moncada-Vélez, Jesús Armando Álvarez, Carmen Oleaga-Quinta, Caroline Deswarte, Juan Fernando Alzate, Felipe Cabarcas, Carlos Garcés, Julio César Orrego, Susana Pamela Mejía, Luz Elena Cano, Jean-Laurent Casanova, Jacinta Bustamante, José Luis Franco, Andrés Augusto Arias
Published 2018-06-01

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

by Marcela Moncada-Vélez, Lucía Victoria Erazo-Borrás, Jesús Armando Álvarez-lvarez, Carlos Andrés Arango, Miyuki Tsumura, Satoshi Okada, Sara Daniela Osorio, Lorena Castro, Natalia González, Catalina Arango, Julio César Orrego, Lina Riaño, Juan Fernando Alzate, Felipe Cabarcas, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco
Published 2018-06-01

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

by 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
Published 2018-06-01