Tuberc Respir Dis.
2008 Sep;65(3):207-211.
A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation
- Affiliations
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- 1Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea. pms70@yuhs.ac
- 2The Institute of Chest Diseases, Yonsei University College of Medicine, Seoul, Korea.
- 3Department of Pathology, Chungnam National University College of Medicine, Daejeon, Korea.
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).
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