Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.

Mou, Wenjun; Yang, Zixin; Wang, Xiaojiao; Hei, Mingyan; Wang, Yajuan; Gui, Jingang

Mou, Wenjun; Yang, Zixin; Wang, Xiaojiao; Hei, Mingyan; Wang, Yajuan; Gui, Jingang.

Afiliación

Mou W; Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Yang Z; Department of Neonatology, Neonatal Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Wang X; Department of Neonatology, Neonatal Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Hei M; Department of Neonatology, Neonatal Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. heimingyan@bch.com.cn.
Wang Y; Department of Neonatology, Children's Hospital, Capital Institute of Pediatrics, Beijing, 100020, China. cxswyj@vip.sina.com.
Gui J; Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. guijingang@bch.com.cn.

Immunogenetics ; 75(4): 385-393, 2023 08.

Article en En | MEDLINE | ID: mdl-37269334

Asunto(s)

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

Palabras clave

Compound heterozygous mutations; Missense mutation; Omenn syndrome; RAG1

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Proteínas de Homeodominio Límite: Female / Humans / Infant Idioma: En Revista: Immunogenetics Año: 2023 Tipo del documento: Article País de afiliación: China

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