Article
[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.]
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) - 19 Apr 2023
Peñafiel-Vicuña Ana Karen, Coyata-Guzmán Rogelio, González Reynoso Anelena, Palma-Chan Adolfo Gonzalo, Baeza-Bastarrachea Ricardo, García-Ruelas Sherel A, Costta-Michuy Ángeles, Razo-Requena Cielo, León-Lara Ximena, Espinosa-Padilla Sara, Espinosa-Rosales Francisco, Bustamante Jacinta, Blancas-Galicia Lizbeth
Abstract excerpt
INTRODUCTION: Chronic granulomatous disease (CGD) is an inborn error of immunity, characterized by abnormal susceptibility to bacterial and fungal infections and a lack of systemic inflammatory regulation. Pathogenic variants in the CYBB gene are transmitted in an X-linked pattern of inheritance; while the pathogenic variants present in the EROS, NCF1, NCF2, NCF4, or CYBA genes are transmitted with an autosomal...
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