Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome
Braz. j. med. biol. res
;
43(12): 1215-1224, Dec. 2010. ilus, tab
Artículo
en Inglés
| LILACS
| ID: lil-568996
ABSTRACT
Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency, and recurrent respiratory infections. RTS has been associated with CREBBP gene mutations, but EP300 gene mutations have recently been reported in 6 individuals. In the present study, the humoral immune response in 16 RTS patients with recurrent respiratory infections of possible bacterial etiology was evaluated. No significant differences between patients and 16 healthy controls were detected to explain the high susceptibility to respiratory infections normal or elevated serum immunoglobulin levels, normal salivary IgA levels, and a good antibody response to both polysaccharide and protein antigens were observed. However, most patients presented high serum IgM levels, a high number of total B cell and B subsets, and also high percentiles of apoptosis, suggesting that they could present B dysregulation. The CREBBP/p300 family gene is extremely important for B-cell regulation, and RTS may represent an interesting human model for studying the molecular mechanisms involved in B-cell development.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Infecciones del Sistema Respiratorio
/
Síndrome de Rubinstein-Taybi
/
Inmunoglobulinas
/
Linfocitos B
/
Inmunidad Humoral
/
Anticuerpos Monoclonales
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Adolescente
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Braz. j. med. biol. res
Asunto de la revista:
Biologia
/
Medicina
Año:
2010
Tipo del documento:
Artículo
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