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Article

A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation.

Journal of human genetics - 1 Jun 2009

van de Vosse Esther, van Wengen Annelies, van Geelen Jos A, de Boer Martin, Roos Dirk, van Dissel Jaap T

Abstract excerpt

Chronic granulomatous disease (CGD) is an immunodeficiency caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase complex and is usually diagnosed in early childhood. CGD patients suffer from severe, recurrent infections with bacteria, fungi and yeasts. We report a 25-year-old female with protracted fever because of a Staphylococcus aureus liver abscess, which did not resolve until...

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Source

Identifiers

PMID: 19329991
DOI: 10.1038/jhg.2009.24

Genes

NCF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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