A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.

Zhang, Xinping; Kang, Xiayan; Yang, Meiyu; Cai, Zili; Song, Yulei; Zhou, Xiong; Cao, Jianshe; Wang, Chengjuan; Huang, Kang; Peng, Yani; He, Jie; Xiao, Zhenghui

Zhang, Xinping; Kang, Xiayan; Yang, Meiyu; Cai, Zili; Song, Yulei; Zhou, Xiong; Cao, Jianshe; Wang, Chengjuan; Huang, Kang; Peng, Yani; He, Jie; Xiao, Zhenghui.

Afiliación

Zhang X; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Kang X; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Yang M; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Cai Z; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Song Y; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Zhou X; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Cao J; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Wang C; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Huang K; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Peng Y; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
He J; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.
Xiao Z; Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China. 3558505778@qq.com.

BMC Pediatr ; 23(1): 56, 2023 02 03.

Article en En | MEDLINE | ID: mdl-36732712

Asunto(s)

Inmunodeficiencia Combinada Grave; Lactante; Humanos; Inmunodeficiencia Combinada Grave/diagnóstico; Inmunodeficiencia Combinada Grave/genética; Inmunodeficiencia Combinada Grave/complicaciones; Proteínas de Homeodominio/genética; Proteínas de Homeodominio/metabolismo; Linfocitos T/metabolismo; Mutación; Genes RAG-1

Palabras clave

RAG deficiency; missense variant; severe combined immunodeficiency; whole-exome sequencing

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2023 Tipo del documento: Article

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