RESUMO

Children and adults can have recurrent infection with invasive encapsulated bacterial pathogens such as Streptococcus pneumoniae as a result of a selective inability to respond to polysaccharide antigens. We have identified a mutation in the gene encoding Bruton's tyrosine kinase in a male patient with selective anti-polysaccharide antibody deficiency.

Assuntos

Agamaglobulinemia/genética , Proteínas Tirosina Quinases/genética , Adulto , Tirosina Quinase da Agamaglobulinemia , Agamaglobulinemia/imunologia , Animais , Formação de Anticorpos , Ligação Genética , Humanos , Masculino , Camundongos , Camundongos Endogâmicos CBA , Mutação , Fenótipo , Vacinação , Cromossomo X