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

Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to early-onset life-threatening bacterial and fungal infections as well as dysregulated chronic inflammation. CGD results from mutations in one of the components of the phagocyte NADPH oxida...

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Principais autores: 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
Format: Artigo
Sprog:Inglês
Udgivet: Colegio Mexicano de Inmunología Clínica y Alergia, A.C. 2018-06-01
Serier:Revista Alergia México
Fag:
nadph
whole exome sequencing
ncf4
chronic granulomatous diseases
Online adgang:http://revistaalergia.mx/ojs/index.php/ram/article/view/502
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