Article

Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset

2023-01-11

Abstract excerpt

<title>Abstract</title> <p>Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI) characterized by a defective respiratory burst by phagocytes and defective clearance of phagocytosed microorganisms; these phenomena, caused by a defect in NADPH oxidase, result in severe and life-threatening infections in affected children. The genetically heterogeneous X-linked recessive (XL-CGD) form of GCD...

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Literature Corpus work: 16c49281-0070-5b8c-8a1b-1a85fe26a5c5
DOI: 10.21203/rs.3.rs-2350316/v1

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