Article
A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.
Molecular genetics & genomic medicine - 1 Jun 2020
AlKhater Suzan A, Deswarte Caroline, Casanova Jean-Laurent, Bustamante Jacinta
Abstract excerpt
BACKGROUND: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) affecting NADPH oxidase activity. The rarest form of the disease is considered to be caused by NCF2 gene bi-allelic variant. Here, we report the clinical and molecular characterization of a patient presenting with early-onset severe disease due to bi-allelic NCF2 variant. METHODS: Gene mutational analysis was...
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