Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
Clin Immunol
; 128(2): 117-26, 2008 Aug.
Article
em En
| MEDLINE
| ID: mdl-18625437
ABSTRACT
Chronic granulomatous disease (CGD) is a primary immunodeficiency of defective neutrophil oxidative burst activity due to mutations in the genes CYBA, NCF-1, NCF-2, and CYBB, which respectively encode the p22-phox, p47-phox, p67-phox, and gp91-phox subunits. CGD usually presents in early childhood with recurrent or severe infection with catalase-positive bacteria and fungi. We present an unusual case of CGD in which Burkholderia cepacia lymphadenitis developed in a previously healthy 10-year-old girl. Flow cytometric analysis of dihydrorhodamine (DHR)-labeled neutrophils performed by a CLIA-approved outside reference laboratory was reported as normal. However, we found that this patient's neutrophil oxidative burst activity in DHR assays was substantially reduced but not absent. A selective decrease in intracellular staining for p67-phox suggested the diagnosis of autosomal recessive CGD due to NCF-2 gene mutations, and a novel homozygous and hypomorphic NCF-2 gene mutation was found. The potential mechanisms for this delayed and mild presentation of CGD are discussed.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
NADPH Oxidases
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Doença Granulomatosa Crônica
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article