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A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.
Mou, Wenjun; He, Jianxin; Chen, Xi; Zhang, Hui; Ren, Xiaoya; Wu, Xunyao; Ni, Xin; Xu, Baoping; Gui, Jingang.
Afiliación
  • Mou W; Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.
  • He J; Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
  • Chen X; Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.
  • Zhang H; Department of Pulmonary Medicine, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
  • Ren X; Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.
  • Wu X; Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
  • Ni X; Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.
  • Xu B; Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
  • Gui J; Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Immunogenetics ; 69(1): 29-38, 2017 Jan.
Article en En | MEDLINE | ID: mdl-27566612

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Eliminación de Secuencia / Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X / Subunidad gamma Común de Receptores de Interleucina Tipo de estudio: Prognostic_studies / Screening_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Immunogenetics Año: 2017 Tipo del documento: Article País de afiliación: China

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Eliminación de Secuencia / Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X / Subunidad gamma Común de Receptores de Interleucina Tipo de estudio: Prognostic_studies / Screening_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Immunogenetics Año: 2017 Tipo del documento: Article País de afiliación: China