[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
en 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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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 22
/
Deleción Cromosómica
/
Trastornos de los Cromosomas
/
Síndromes de Inmunodeficiencia
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
Pl
Revista:
Postepy Hig Med Dosw (Online)
Asunto de la revista:
ALERGIA E IMUNOLOGIA
/
MEDICINA
/
SAUDE PUBLICA
Año:
2007
Tipo del documento:
Article
País de afiliación:
Polonia