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

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

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