X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis.
Clin Exp Rheumatol
; 25(2): 336-8, 2007.
Article
em En
| MEDLINE
| ID: mdl-17543165
ABSTRACT
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 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.CONCLUSION:
CGD is an important differential diagnosis of juvenile sarcoidosis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sarcoidose
/
Glicoproteínas de Membrana
/
NADPH Oxidases
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Doença Granulomatosa Crônica
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Clin Exp Rheumatol
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Áustria