X-linked Agammaglobulinemia Associated with Bronchiectasis: A Case Report / 결핵
Tuberculosis and Respiratory Diseases
;
: 628-634, 2003.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Plasma Cells
/
Protein-Tyrosine Kinases
/
Bronchi
/
Bronchiectasis
/
Immunoglobulins
/
B-Lymphocytes
/
Cytoplasm
/
Agammaglobulinemia
/
Dilatation
/
Korea
Type of study:
Screening study
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
Korean
Journal:
Tuberculosis and Respiratory Diseases
Year:
2003
Type:
Article
Similar
MEDLINE
...
LILACS
LIS