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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