title: Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.
authors.affiliation: Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jieun
authors.initials: J
authors.lastname: Seo
authors.affiliation: Cell Logistics Research Center and School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea.
authors.forename: Jung-Ah
authors.initials: JA
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Dong In
authors.initials: DI
authors.lastname: Suh
authors.affiliation: Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea.
authors.forename: Eun-Byeol
authors.initials: EB
authors.lastname: Park
authors.affiliation: Cell Logistics Research Center and School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea.
authors.forename: Cho-Rong
authors.initials: CR
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Sun Ah
authors.initials: SA
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Soo Yeon
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Yeji
authors.initials: Y
authors.lastname: Kim
authors.affiliation: Cell Logistics Research Center and School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea.
authors.forename: Sang-Heon
authors.initials: SH
authors.lastname: Park
authors.affiliation: School of Liberal Arts and Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea.
authors.forename: Michael
authors.initials: M
authors.lastname: Ye
authors.affiliation: Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Soon-Hak
authors.initials: SH
authors.lastname: Kwon
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: June Dong
authors.initials: JD
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.affiliation: Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Dong Hun
authors.initials: DH
authors.lastname: Lee
authors.affiliation: Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea.
authors.forename: Suk-Jo
authors.initials: SJ
authors.lastname: Kang
authors.affiliation: Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. Electronic address: murimchoi@snu.ac.kr.
authors.forename: Murim
authors.initials: M
authors.lastname: Choi
authors.affiliation: Cell Logistics Research Center and School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. Electronic address: sgpark@gist.ac.kr.
authors.forename: Sung-Gyoo
authors.initials: SG
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. Electronic address: chaeped1@snu.ac.kr.
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010880:Piperidines / Q000627:therapeutic use*; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D011758:Pyrroles / Q000627:therapeutic use*; D014652:Vascular Diseases / Q000188:drug therapy* / Q000235:genetics*; D000099197:STING Protein
chemical_list: D008565:Membrane Proteins; D010880:Piperidines; D047428:Protein Kinase Inhibitors; D011743:Pyrimidines; D011758:Pyrroles; C532857:STING1 protein, human; D000099197:STING Protein; C479163:tofacitinib