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

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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Bibliographic Details
Main Authors: Juan Shen, Li Jiang, Yifang Gao, Rongqiong Ou, Sifei Yu, Binyan Yang, Changyou Wu, Weiping Tan
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Genetics
Subjects:
Omenn syndrome
RAG1 gene
SCID
mutation
Immune responses
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00913/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00913/full

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