Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing

Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing

IntroductionChronic granulomatous disease is caused by mutations in any of the 6 components of the phagocytic NADPH oxidase complex including gp91phox, p47phox, p22phox, p40phox, p67phox, or EROS. Functional assays include reactive oxygen species (ROS) production, flow cytometry, and immunoblotting...

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Main Authors: Amy P. Hsu, Eric Karlins, Justin Lack, T. Joseph Pepper, Karen Lau, Kimberly R. Marshall-Batty, Debra Long Priel, Joie Davis, Danielle L. Fink, Christa S. Zerbe, John I. Gallin, Harry L. Malech, Steven M. Holland, Douglas B. Kuhns
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Immunology
Subjects:
NCF1
CGD
chronic granulomatous disease (CGD)
NGS
ONT long read sequencing
pseudogene
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1640496/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1640496/full

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