X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis.
BACKGROUND
Chronic granulomatous disease (CGD) is caused by mutations in genes encoding nicotinamide dinucleotide phosphate (NADPH) oxidase subunits.


METHODS
A boy was diagnosed as having juvenile sarcoidosis because he presented with cervical and pulmonary lymphadenopathy with epitheloid cells and granuloma formation and high angiotensin converting enzyme. Later, a liver abscess was diagnosed. CGD was established by a dihydrorhodamine 123 (DHR) assay and genetic analysis revealed an unusual intra-exonic splice mutation in the CYBB gene encoding gp91-phox. It did not change the amino acid sequence and allowed for residual NADPH oxidase activity explaining the late onset of the disease.


CONCLUSIONS
CGD is an important differential diagnosis of juvenile sarcoidosis.
Brunner
J
J
Deparment of Pediatrics, Medical University of Innsbruck, 6020 Innsbruck, Austria. juergen.brunner@uklibk.ac.at
Dockter
G
G
Rösen-Wolff
A
A
Roesler
J
J
D002648:Child; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009249:NADP / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*; D012507:Sarcoidosis / Q000175:diagnosis*
D008562:Membrane Glycoproteins; D009249:NADP; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases