A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome

Omenn syndrome is a rare autosomal recessive disorder characterized by severe, combined immunodeficiency and autoimmune features. In this case study, we found Omenn syndrome in a 3-month-old boy with recurrent infection, erythroderma, axillary lymphadenopathy, and hepatosplenomegaly. The numbers of...

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Detalles Bibliográficos
Autores principales: Shen, Juan, Jiang, Li, Gao, Yifang, Ou, Rongqiong, Yu, Sifei, Yang, Binyan, Wu, Changyou, Tan, Weiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6783574/
https://www.ncbi.nlm.nih.gov/pubmed/31632441
http://dx.doi.org/10.3389/fgene.2019.00913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6783574/
https://www.ncbi.nlm.nih.gov/pubmed/31632441
http://dx.doi.org/10.3389/fgene.2019.00913

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