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J. Allergy Clin. Immunol., Available online 2 December 2019 | https://doi.org/10.1016/j.jaci.2019.11.028 Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder

Jeong Seok Lee MD^a,b,†, Yohan An BS^c,†, Christopher J. Yoon MPhil^d,e,†, Jeong Yeon Kim PhD^a, Kyung Hwan Kim MD^b, Alexandra F. Freeman MD^f, Jae-Joon Yim MD, PhD^g, Eui-Cheol Shin MD, PhD^b, Steven M. Holland MD^f, Eun Young Lee MD, PhD^a,∗, Young Seok Ju MD, PhD^b,c,∗

^aDivision 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
^cBiomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Daejeon, Korea
^_dResearch 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
^fAllergy and Infectious Diseases, National Institutes of Health, Bethesda, MD
^gDivision 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

논문정보

형식Research article
게재일2019년 12월 (BRIC 등록일 2019-12-10)
연구진국내(교신)+국외 연구진
분야 의약학 > 유전 및 유전체의학

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