T-cell immunodeficiency in CHARGE syndrome.
Acta Paediatr
; 98(2): 408-10, 2009 Feb.
Article
em En
| MEDLINE
| ID: mdl-18976358
ABSTRACT
UNLABELLED CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. The association between CHARGE syndrome and T-cell immunodeficiency is recognized, but has not been reported widely in the literature. We report four patients meeting the diagnostic criteria for CHARGE syndrome, who had moderate or severe T-cell lymphopenia complicated by infections. The patients presented in Leicester, UK, between 2000 and 2007. All patients were negative for 22q11.2 deletions by FISH analysis, but mutations in the CHD7 gene were identified in three patients in whom the analysis was performed. Our cases indicate that patients with CHARGE syndrome may have a spectrum of T-cell immune deficiency, and that this association may be more common than has previously been appreciated. We recommend that all patients diagnosed with CHARGE syndrome should have lymphocyte subsets evaluated as part of their initial investigation. CONCLUSION:
Thymic hypoplasia should be included in the clinical features associated with CHARGE syndrome. All patients with CHARGE syndrome should have lymphocyte subset analysis performed, to exclude T-cell immunodeficiency.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Linfócitos T
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Coloboma
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Atresia das Cóanas
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Genitália
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Transtornos do Crescimento
/
Cardiopatias Congênitas
/
Síndromes de Imunodeficiência
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Acta Paediatr
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Reino Unido