[The 22q11.2 deletion syndrome: immunological questions]. / Zespól mikrodelecji 22q11.2--zagadnienia immunologiczne.
Postepy Hig Med Dosw (Online)
; 61: 361-8, 2007 Jun 12.
Article
em Pl
| MEDLINE
| ID: mdl-17572656
ABSTRACT
The 22q11.2 deletion syndrome occurs in approximately 1 of 3000-5000 children. This is a congenital disorder characterized by facial dysmorphic features, cardiac defects, thymic hypoplasia, cleft palate, hypoparathyroidism, and psychiatric disorders. Patients generally exhibit a mild to moderate decrement in T-cell numbers with preservation of T-cell function. We describe advances in understanding the genetic basis of this syndrome, its clinical manifestations, and new information on immunodeficiences in this syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 22
/
Deleção Cromossômica
/
Transtornos Cromossômicos
/
Síndromes de Imunodeficiência
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Humans
Idioma:
Pl
Ano de publicação:
2007
Tipo de documento:
Article