일란성 쌍생아 형제에서 확인된 성염색체 열성 만성 육아종 질환 = A Case of X-linked Chronic Granulomatous Disease Diagnosed in Identical Twin

다국어 초록 (Multilingual Abstract)

Chronic granulomatous disease (CGD) is a rare, inherited congenital immunodeficiency disease, characterized by severe and recurrent infections at epithelial surfaces or in more vital organs such as the liver, lung or brain. There are two types of inheritance: X-linked recessive and autosomal recessive. The disease is caused by mutations of proteins, which compose the NADPH oxidase of phagocytes. The most common X-linked CGD type exhibits defect in CYBB encoding gp91phox. It rarely arise from intronic mutations within CYBB. This report describes identical twin patients with X-linked form CGD that showed mutations at intron 1.

국문 초록 (Abstract)

만성 육아종 질환은 간, 폐, 뇌와 같은 중요 장기에 반복적이고, 중증의 감염을 나타내는 선천성 면역 결핍 질환으로, 성염색체 열성 및 상염색체 열성으로 유전되는 드문 질환이다. 이 질환은 포식 세포들의 NADPH 산화효소를 구성하는 단백질의 돌연변이로 발생한다. 만성 육아종 질환은 성염색체 열성으로 유전되는 경우가 가장 많으며, gp91phox 단백을 구성하는 CYBB 유전자의 돌연변이로 발생하게 된다. 인트론의 돌연변이로 발생하는 경우는 드물며, CYBB 유전자의 돌연변이 중 아직까지 인트론 1번에서 돌연변이가 발생한 예는 보고되지 않았다. 본 증례의 환아들은 일란성 쌍생아로, 성염색체 열성 유전 양식의 만성 육아종 질환이 진단되었으며, 분자유전학적 검사를 시행하였을 때 인트론 1번에서의 돌연변이가 관찰되었기에, 이를 보고하는 바이다.

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