Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease.
J Clin Immunol
; 31(5): 792-801, 2011 Oct.
Article
em En
| MEDLINE
| ID: mdl-21789723
ABSTRACT
BACKGROUND:
Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran.METHODS:
Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families.RESULTS:
Most of the patients were AR-CGD (87.1%). This was related to consanguineous marriages (p = 0.001). The age of onset of symptoms and diagnosis were lower in XL-CGD compared with AR-CGD (p < 0.0001 for both). Among AR-CGD patients, p47phox defect was the predominant subtype (55.5%). The most common clinical features in patients were lymphadenopathy (65.6%) and pulmonary involvement (57%). XL-CGD patients were affected more frequently with severe infectious manifestations.CONCLUSIONS:
Although XL-CGD is the most common type of the disease worldwide, only 12 patients (12.9%) were XL-CGD in our study. The relatively high frequency of AR-CGD is probable due to widely common consanguineous marriages in Iran.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
NADPH Oxidases
/
Doença Granulomatosa Crônica
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Irã