A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation / 결핵및호흡기질환
Tuberculosis and Respiratory Diseases
; : 207-211, 2008.
Article
in Ko
| WPRIM
| ID: wpr-25466
Responsible library:
WPRO
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).
Key words
Full text:
1
Index:
WPRIM
Main subject:
Pneumonia
/
Respiratory Tract Infections
/
Tyrosine
/
Protein-Tyrosine Kinases
/
Bronchiectasis
/
B-Lymphocytes
/
Introns
/
Cytoplasm
/
Agammaglobulinemia
/
Genetic Diseases, X-Linked
Limits:
Humans
/
Male
Language:
Ko
Journal:
Tuberculosis and Respiratory Diseases
Year:
2008
Type:
Article