J Allergy Clin Immunol. 2020;145(3):1017-1021.
Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.
제1저자 이정석, 안요한, 윤종수 · 교신저자 이은영, 주영석
소속 (9)
- Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea.
- Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea.
- Research Center for Natural Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea; Department of Medicine, Washington University in St Louis, St Louis, Mo.
- Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
- Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea.
- Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
- Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
- Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. Electronic address: elee@snu.ac.kr.
- Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea. Electronic address: ysju@kaist.ac.kr.
그 밖의 정보
- 출판 형태
- Case Reports, Letter, Research Support, Non-U.S. Gov't
- 저널
- The Journal of allergy and clinical immunology · eISSN 1097-6825
- 전자 출판
- 2019-12-02
- MeSH
- Diabetes Mellitus, Type 1 / congenital / genetics · Diarrhea / genetics · Female · Gain of Function Mutation · Genetic Diseases, X-Linked / genetics · Germ-Line Mutation · Humans · Immune System Diseases / congenital / genetics · Mosaicism · STAT1 Transcription Factor / genetics
- Substances
- STAT1 Transcription Factor · STAT1 protein, human