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

G. Dockter¹  J. Brunner¹  J. Roesler¹  A. Rösen-Wolff¹ 

关键词: Chronic granulomatous disease;    primary immunodeficiency;    sarcoidosis.;   

DOI  :  

学科分类：医学（综合）

来源: Pacini Editore SpA

【 摘 要 】

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. CONCLUSIONS: CGD is an important differential diagnosis of juvenile sarcoid-osis.

【 授权许可】

Unknown