Información adicional

• Num_publicacion 64(5)
• Resumen_ingles

  DiGeorge syndrome is a heterogeneous condition associated with an abnormal embryogenesis of the third and fourth pharyngeal pouches, which usually affects the thymus, in many cases, leading to impaired T-cell response. It can also be associated with cardiac defects, hypocalcemia, hypoparathyr¬oidism, facial dysmorphism and psychomotor retardation. In most cases, it is attributed to a deletion of 22q11.2, which includes genes like UFD1L, TXB1 and CRKL, which are very probably associated with the disease. However, the anomalies produced by this chromosomal alteration vary widely from one individual to another. The severity of the immunodeficiency observed in these patients ranges from a T-cell function similar to that of normal individuals to a total absence of circulating T cells. In these cases of complete DiGeorge syndrome, different approaches such as bone marrow or thymic tissue transplantation, or even peripheral blood mononuclear cell infusion, have been shown to effectively reconstitute the immune system, providing protection against the opportunistic infections to which these immunodeficient patients may be subjected

• Palabras_clave_ingles Microdeletions congenital heart disease thymic defect immunodeficiency 22q11.2 deletion immunological reconstitution
• Todos_autores R. Correa Rocha, I. Galán Carrillo, E. Seoane, M.A. Muñoz Fernández
• autores listados R. Correa Rocha, I. Galán Carrillo, E. Seoane, M.A. Muñoz Fernández
• Correspondecia
  M.A. Muñoz-Fernández. Departamento de Inmunología. Hospital General Universitario «Gregorio Marañón». Doctor Esquerdo, 46. 28007 Madrid.
  Correo electrónico: mmunoz@cbm.uam.es
• Titulo_ingles Immunological reconstitution in children with DiGeorge anomaly
• Centros_trabajo Servicio de Inmunología. Hospital General Universitario «Gregorio Marañón». Madrid
• Publicado en Acta Pediatr Esp. 2006; 64: 203-207
• copyright ©2006 Ediciones Mayo, S.A.
• Fecha recepcion 03/06/05
• Fecha aceptacion 01/03/06