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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
 1738-3536 
Issue Date
2008
Keywords
Agammaglobulinemia ; Bruton’s tyrosine kinase ; Mutation
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:
T200801308.pdf Download
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
Kim, Se Kyu(김세규)
Kim, Young Sam(김영삼) ORCID logo https://orcid.org/0000-0001-9656-8482
Moon, Ji Ae(문지애)
Park, Moo Suk(박무석) ORCID logo https://orcid.org/0000-0003-0820-7615
Park, Byung Hoon(박병훈)
Byun, Min Kwang(변민광) ORCID logo https://orcid.org/0000-0003-1525-1745
Son, Ji Young(손지영)
Chang, Joon(장준) ORCID logo https://orcid.org/0000-0003-4542-6841
Chung, Moon Jae(정문재) ORCID logo https://orcid.org/0000-0002-5920-8549
Jung, Ji Ye(정지예) ORCID logo https://orcid.org/0000-0003-1589-4142
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/107608
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