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Btk 유전자 인트론 2 돌연변이에 의한 X연관 무감마글로불린혈증 1예

Other Titles
 A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation. 
Authors
 정문재  ;  정지예  ;  손지영  ;  구철룡  ;  박병훈  ;  변민광  ;  문지애  ;  김영삼  ;  김세규  ;  장 준  ;  김성규  ;  신동민  ;  박무석 
Citation
 Tuberculosis and Respiratory Diseases, Vol.65(3) : 207-211, 2008 
Journal Title
 Tuberculosis and Respiratory Diseases 
ISSN
 3780-0066 
Issue Date
2008
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).
Files in This Item:
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DOI
10.4046/trd.2008.65.3.207
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
김세규(Kim, Se Kyu)
김영삼(Kim, Young Sam) ORCID logo https://orcid.org/0000-0001-9656-8482
문지애(Moon, Ji Ae)
박무석(Park, Moo Suk) ORCID logo https://orcid.org/0000-0003-0820-7615
박병훈(Park, Byung Hoon)
변민광(Byun, Min Kwang) ORCID logo https://orcid.org/0000-0003-1525-1745
손지영(Son, Ji Young)
장준(Chang, Joon) ORCID logo https://orcid.org/0000-0003-4542-6841
정문재(Chung, Moon Jae) ORCID logo https://orcid.org/0000-0002-5920-8549
정지예(Jung, Ji Ye) ORCID logo https://orcid.org/0000-0003-1589-4142
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/107608
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