Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder

Affiliations

• ¹ 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.
• ² Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea.
• ³ 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.
• ⁴ Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
• ⁵ Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea.
• ⁶ Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
• ⁷ Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
• ⁸ Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. Electronic address: elee@snu.ac.kr.
• ⁹ 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.