A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation / 결핵및호흡기질환
Tuberculosis and Respiratory Diseases
;
: 207-211, 2008.
Artigo
em Coreano
| WPRIM
| ID: wpr-25466
ABSTRACT
X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pneumonia
/
Infecções Respiratórias
/
Tirosina
/
Proteínas Tirosina Quinases
/
Bronquiectasia
/
Linfócitos B
/
Íntrons
/
Citoplasma
/
Agamaglobulinemia
/
Doenças Genéticas Ligadas ao Cromossomo X
Limite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Tuberculosis and Respiratory Diseases
Ano de publicação:
2008
Tipo de documento:
Artigo
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