Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1

In humans, recessive loss-of-function mutations in STAT1 are associated with mycobacterial and viral infections, whereas gain-of-function (GOF) mutations in STAT1 are associated with a type of primary immunodeficiency related mainly, but not exclusively, to chronic mucocutaneous candidiasis (CMC). W...

Full description

Bibliographic Details
Main Authors: Sigifredo Pedraza-Sánchez, Jose Luis Lezana-Fernández, Yolanda Gonzalez, Luis Martínez-Robles, María Laura Ventura-Ayala, Stanislaw Sadowinski-Pine, Margarita Nava-Frías, Sarbelio Moreno-Espinosa, Jean-Laurent Casanova, Anne Puel, Stephanie Boisson-Dupuis, Martha Torres
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-12-01
Series:Frontiers in Immunology
Subjects:
signal transduction and activator of transcription 1
gain-of-function mutation
mycobacterial infection
tuberculosis
immunodeficiency
IL-17
Online Access:http://journal.frontiersin.org/article/10.3389/fimmu.2017.01651/full

Internet

http://journal.frontiersin.org/article/10.3389/fimmu.2017.01651/full

Similar Items