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

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

Background: The transcription factor STAT1 plays a critical role in the immune response against mycobacterial, viral and fungal infections. Different mutations in STAT1 result in diverse clinical phenotypes: AR complete/partial biallelic mutations are associated with mycobacterial and viral infectio...

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Main Authors: 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
Format: Article
Language:Spanish
Published: Colegio Mexicano de Inmunología Clínica y Alergia, A.C. 2018-06-01
Series:Revista Alergia México
Subjects:
mutations in stat1
whole exome sequencing
chronic mucocutaneous candidiasis
tuberculosis
Online Access:http://revistaalergia.mx/ojs/index.php/ram/article/view/489

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http://revistaalergia.mx/ojs/index.php/ram/article/view/489

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