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Article

X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis.

Clinical and experimental rheumatology - 1 Jan 2000

Brunner J, Dockter G, Rösen-Wolff A, Roesler J

Abstract excerpt

BACKGROUND: Chronic granulomatous disease (CGD) is caused by mutations in genes encoding nicotinamide dinucleotide phosphate (NADPH) oxidase subunits. CASE REPORT: A boy was diagnosed as having juvenile sarcoidosis because he presented with cervical and pulmonary lymphadenopathy with epitheloid c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17543165

Genes

CYBB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17543165-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis.PMID 17543165Read ↗

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