1.
J Pediatr
; 139(4): 600-3, 2001 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11598613
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
2.
J Pediatr
; 139(1): 148-51, 2001 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11445810
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.