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A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation  

Chung, Moon Jae (Department of Internal Medicine, Yonsei University College of Medicine)
Jung, Ji Ye (Department of Internal Medicine, Yonsei University College of Medicine)
Son, Ji-Young (Department of Internal Medicine, Yonsei University College of Medicine)
Ku, Cheol Ryong (Department of Internal Medicine, Yonsei University College of Medicine)
Park, Byung Hoon (Department of Internal Medicine, Yonsei University College of Medicine)
Byun, Min Kwang (Department of Internal Medicine, Yonsei University College of Medicine)
Moon, Ji Ae (Department of Internal Medicine, Yonsei University College of Medicine)
Kim, Young Sam (Department of Internal Medicine, Yonsei University College of Medicine)
Kim, Se Kyu (Department of Internal Medicine, Yonsei University College of Medicine)
Chang, Joon (Department of Internal Medicine, Yonsei University College of Medicine)
Kim, Sung Kyu (Department of Internal Medicine, Yonsei University College of Medicine)
Shin, Dong Min (Department of Pathology, Chungnam National University College of Medicine)
Park, Moo Suk (Department of Internal Medicine, Yonsei University College of Medicine)
Publication Information
Tuberculosis and Respiratory Diseases / v.65, no.3, 2008 , pp. 207-211 More about this Journal
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).
Keywords
Agammaglobulinemia; Bruton's tyrosine kinase; Mutation;
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