Tuberculosis and Respiratory Diseases

The Korean Academy of Tuberculosis and Respiratory Diseases (대한결핵및호흡기학회)
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A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation

Btk 유전자 인트론 2 돌연변이에 의한 X연관 무감마글로불린혈증 1예

  • 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)
  • 정문재 (연세대학교 의과대학 내과학교실) ;
  • 정지예 (연세대학교 의과대학 내과학교실) ;
  • 손지영 (연세대학교 의과대학 내과학교실) ;
  • 구철룡 (연세대학교 의과대학 내과학교실) ;
  • 박병훈 (연세대학교 의과대학 내과학교실) ;
  • 변민광 (연세대학교 의과대학 내과학교실) ;
  • 문지애 (연세대학교 의과대학 내과학교실) ;
  • 김영삼 (연세대학교 의과대학 내과학교실) ;
  • 김세규 (연세대학교 의과대학 내과학교실) ;
  • 장준 (연세대학교 의과대학 내과학교실) ;
  • 김성규 (연세대학교 의과대학 내과학교실) ;
  • 신동민 (충남대학교 의과대학 병리학교실) ;
  • 박무석 (연세대학교 의과대학 내과학교실)
  • Received : 2008.06.13
  • Accepted : 2008.08.11
  • Published : 2008.09.30
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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).

저자들은 발열, 기침, 객담을 주소로 입원한 24세 남환의 임상증상, 이학적 검사, 혈청학적 및 면역학적, 유전자 검사상 X연관 무감마글로불린혈증으로 진단된 예를 관찰하였기에 문헌 고찰과 함께 보고 하는 바이다. 반복적인 감염을 보이는 젊은 성인 환자에서 유전자 이상(Btk gene mutation)에 의한 면역결핍질환(X-linked agammaglobulinemia)의 가능성을 꼭 의심해 보아야 한다.

Keywords

References

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