title: Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.
authors.affiliation: Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Sangmoon
authors.initials: S
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Moon
authors.affiliation: School of Life Sciences and Integrative Aging Research Center, Gwangju Institute of Science and Technology, Gwangju, Korea.
authors.forename: Cho-Rong
authors.initials: CR
authors.lastname: Lee
authors.affiliation: School of Life Sciences and Integrative Aging Research Center, Gwangju Institute of Science and Technology, Gwangju, Korea.
authors.forename: Hye-Eun
authors.initials: HE
authors.lastname: Kim
authors.affiliation: School of Life Sciences and Integrative Aging Research Center, Gwangju Institute of Science and Technology, Gwangju, Korea.
authors.forename: Sun-Mi
authors.initials: SM
authors.lastname: Baek
authors.affiliation: Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.
authors.forename: Solha
authors.initials: S
authors.lastname: Hwang
authors.affiliation: Department of Pathology, Seoul National University Hospital, Seoul, Korea.
authors.forename: Gyeong Hoon
authors.initials: GH
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
authors.affiliation: Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.
authors.forename: Choong Ho
authors.initials: CH
authors.lastname: Shin
authors.affiliation: Department of Pediatrics, Seoul National University Hospital, Seoul, Korea; Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hyoung Jin
authors.initials: HJ
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Seoul National University Hospital, Seoul, Korea. Electronic address: kojs@snu.ac.kr.
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.affiliation: School of Life Sciences and Integrative Aging Research Center, 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 Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea; Department of Pediatrics, Seoul National University Hospital, Seoul, Korea. Electronic address: murimchoi@snu.ac.kr.
authors.forename: Murim
authors.initials: M
authors.lastname: Choi
mesh_terms: D000069594:Abatacept / Q000627:therapeutic use*; D000293:Adolescent; D001327:Autoimmune Diseases / Q000188:drug therapy* / Q000235:genetics*; D060908:CTLA-4 Antigen / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D009154:Mutation
chemical_list: D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D007166:Immunosuppressive Agents; D000069594:Abatacept