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Early-onset inflammatory bowel disease caused by mutations in the X-linked gene IL2RG

Ogawa A1, Watanabe T1, Natsume T1, Okura E1, Saito S1, Kato S1, Nakayama Y1, Furukawa S2, Yamaguchi T3,4, Kosho T3,4, Uehara T2, Kobayashi N1, Agematsu K5, Nakazawa Y1, Shigemura T1

1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan
2Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan
3Department of Medical Genetics, Shinshu University School of Medicine
4Center for Medical Genetics, Shinshu University Hospital
5Department of Molecular and Cellular Immunology, Shinshu University School of Medicine

J Investig Allergol Clin Immunol 2021; Vol. 31(1)
doi: 10.18176/jiaci.0523

Key words: Severe combined immunodeficiency, Early-onset inflammatory bowel disease, X-SCID, Maternal T cells