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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 334 - 339 (6page)
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초록· 키워드
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상염색체 우성 만성점막피부칸디다증(autosomal dominant chronic mucocutaneous candidiasis, AD-CMC)는 만성점막피부칸디다증의 아형 중 하나로 signal transducer and activator of transcription 1 (STAT1) 단백의 기능획득(gain-of-function, GOF) 돌연변이로 인해 나타난다. STAT1단백의 GOF 변이는 Th17 세포의 분화과정에 문제를 야기하고 이로 인해 피부, 점막 등이 캔디다 감염에 취약하게 된다. STAT1단백의 GOF 변이의 확인이AD-CMC 진단에 필수적이지만 감염 합병증을 줄이고 적절한 치료를 위해서는 유전자 검사보다 빠르고 간편한 검사법이 필요하다. 유세포 분석기를 이용하여 자극 후 세포내 인산화 STAT1 단백(pSTAT1)을 측정할 수 있다. 본 보고에서는 AD-CMC로 진단된 24세 여자환자에서 유세포 분석을 통하여 STAT 신호전달 활성화 상태를 보여주었다. 대조군에 비하여 환자의T 림프구에서 감마인터페론으로 자극 후 pSTAT1은 증가되고 저해제를 처리한 후에는 덜 감소하였다. 본 보고는 한국에서 STAT1 GOF 돌연변이를 진단하고 감시하는데 유세포 분석을 이용할 수 있음을 보여준 첫 증례이다.
목차
등록된 정보가 없습니다.
참고문헌 (18)
참고문헌 신청
van de Veerdonk FL / 2016 / Treatment options for chronic mucocutaneous candidiasis / J Infect 72:S56~60
van de Veerdonk FL / 2011 / STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis / N Engl J Med 365:54~61
Shuai K / 2003 / Regulation of JAK-STAT signalling in the immune system / Nat Rev Immunol 3:900~911
Liu L / 2011 / Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis / J Exp Med 208:1635~1648
Bitar M / 2017 / Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4+ and CD8+ T cells-clinical applications in primary immunodeficiency diagnostics / J Allergy Clin Immunol 140:1439~1441
van de Veerdonk FL / 2011 / STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis / N Engl J Med 365:54~61
Shuai K / 2003 / Regulation of JAK-STAT signalling in the immune system / Nat Rev Immunol 3:900~911
Liu L / 2011 / Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis / J Exp Med 208:1635~1648
Bitar M / 2017 / Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4+ and CD8+ T cells-clinical applications in primary immunodeficiency diagnostics / J Allergy Clin Immunol 140:1439~1441
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