X-linked Agammaglobulinemia Associated with Bronchiectasis: A Case Report / 결핵
Tuberculosis and Respiratory Diseases
;
: 628-634, 2003.
Artículo
en Coreano
| WPRIM
| ID: wpr-105636
ABSTRACT
Bronchiectasis is defined as an abnormal, irreversible dilatation of the bronchi, which may result from a number of possible causes, and the recognition of these causes may lead to a specific management strategy. Immunodeficiency is known as one of the conditions associated with bronchiectasis. X-linked agammaglobulinemia is a rare inheritable immunodeficiency disorder, caused by a differentiation block, leading almost to the complete absence of B lymphocytes and plasma cells. The affected protein is a cytoplasmic protein tyrosine kinase, Bruton's tyrosine kinase. The early detection and treatment with immunoglobulin replacement are most important for the management of recurrent infections and for reducing severe complications. We report a 20-year-old male patient, with X-linked agammaglobulinemia associated with bilateral bronchiectasis, carrying a missense mutation(R520P) in the BTK gene.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Células Plasmáticas
/
Proteínas Tirosina Quinasas
/
Bronquios
/
Bronquiectasia
/
Inmunoglobulinas
/
Linfocitos B
/
Citoplasma
/
Agammaglobulinemia
/
Dilatación
/
Corea (Geográfico)
Tipo de estudio:
Estudio de tamizaje
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Tuberculosis and Respiratory Diseases
Año:
2003
Tipo del documento:
Artículo
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