Assuntos
Mutação , Síndrome de Rubinstein-Taybi/genética , Adolescente , Adulto , Sequência de Bases , Brasil , Proteína de Ligação a CREB , Criança , Pré-Escolar , Cromossomos Humanos Par 16/genética , Cromossomos Humanos Par 2/genética , Códon sem Sentido , Análise Mutacional de DNA , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único , Síndrome de Rubinstein-Taybi/patologia , Deleção de Sequência , Translocação Genética , Adulto JovemRESUMO
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.
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem , Anticorpos Monoclonais/análise , Linfócitos B/imunologia , Imunidade Humoral/imunologia , Imunoglobulinas/análise , Infecções Respiratórias/imunologia , Síndrome de Rubinstein-Taybi/imunologia , Anticorpos Monoclonais/imunologia , Estudos de Casos e Controles , Proteína de Ligação a CREB/genética , Imunidade Humoral/genética , Imunoglobulinas/imunologia , RecidivaRESUMO
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.
