RESUMO

Two patients who were initially given a diagnosis of Langerhans' cell histiocytosis on the basis of the clinical, radiologic, and biopsy findings had mycobacterial infection subsequently identified. The correct diagnosis of dominant partial interferon-gamma receptor deficiency was established.

Assuntos

Histiocitose de Células de Langerhans/diagnóstico por imagem , Histiocitose de Células de Langerhans/patologia , Receptores de Interferon/deficiência , Receptores de Interferon/genética , Vacina BCG/efeitos adversos , Bacillus/isolamento & purificação , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Infecções por Mycobacterium/diagnóstico , Infecções por Mycobacterium/etiologia , Radiografia , Receptor de Interferon gama

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