Btk 유전자 인트론 2 돌연변이에 의한 X연관 무감마글로불린혈증 1예
A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation
정지예 (연세대학교)
손지영 (연세대학교)
구철룡 (연세대학교)
박병훈 (연세의대)
변민광 (연세의대)
문지애 (연세의대)
김영삼 (연세대학교)
김세규 (연세대학교)
장준 (연세대학교)
김성규 (연세대학교)
신동민 (충남대학교)
박무석 (연세대학교)
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초록
저자들은 발열, 기침, 객담을 주소로 입원한 24세 남환의 임상증상, 이학적 검사, 혈청학적 및 면역학적, 유전자검사상 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
- 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).
- keywords
- Agammaglobulinemia, Bruton’s tyrosine kinase, Mutation
참고문헌
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