Practitioner's Corner

Novel Mutation of IL2RG Gene in a Korean Boy With X-linked Severe Combined Immunodeficiency

YW Lee,¹ EA Yang,¹ HJ Kang,² X Yang,³ N Mitsuiki,^4,5 O Ohara,^4,6 T Miyawaki,³ H Kanegane,³ JH Lee¹

¹ Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Korea
² Department of Pediatrics, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea
³ Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
⁴ Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Chiba, Japan
⁵ Division of Pediatrics and Developmental Biology, Tokyo Medical and Dental University Graduate School, Tokyo, Japan
⁶ Laboratory for Immunogenomics, Research Center for Allergy and Immunology, RIKEN Yokohama Institute, Yokohama, Japan

J Investig Allergol Clin Immunol 2013; Vol. 23(1): 50-73