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KMID : 0383820080650030207
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Tuberculosis and Respiratory Diseases
2008 Volume.65 No. 3 p.207 ~ p.211
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A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation
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Chung Moon-Jae
Jung Ji-Ye
Son Ji-Young
Ku Cheol-Ryong
Park Byung-Hoon
Byun Min-Kwang
Moon Ji-Ae
Kim Young-Sam
Kim Se-Kyu
Chang Joon
Kim Sung-Kyu
Shin Dong-Min
Park Moo-Suk
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Abstract
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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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KEYWORD
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Agammaglobulinemia, Bruton’s tyrosine kinase, Mutation
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