한빛사논문
KAIST, Washington University in St. Louis
Jeong Seok Lee MDa,b,†, Yohan An BSc,†, Christopher J. Yoon MPhild,e,†, Jeong Yeon Kim PhDa, Kyung Hwan Kim MDb, Alexandra F. Freeman MDf, Jae-Joon Yim MD, PhDg, Eui-Cheol Shin MD, PhDb, Steven M. Holland MDf, Eun Young Lee MD, PhDa,∗, Young Seok Ju MD, PhDb,c,∗
a Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
b Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Korea
c Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Daejeon, Korea
d Research Center for Natural Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea
e Department of Medicine, Washington University in St. Louis, St Louis, MO
f Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD
g Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea
† These authors contributed equally to this work.
∗ These authors contributed equally to this work.
Abstract
We report a case of immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like-disorder with a somatic mosaicism which eliminates de novo STAT1 gain-of-function mutation in a proportion of T cells, and speculate that this contributes the autoimmunity in the patient.
Keywords : IPEX-like disorder; STAT1; Gain-of-function mutation; Somatic mosaicism
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