Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin

Abstract Background Netherton syndrome (NS) is an autosomal recessive disorder due to mutations in the SPINK5 gene. Here, we report the first case of NS caused by a large genomic deletion. Methods We present the clinical data of a 3‐year‐old Chinese boy who was initially misdiagnosed with severe ato...

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Bibliographic Details
Main Authors: Zhen Zhang, Chaolan Pan, Ruoqu Wei, Huaguo Li, Yijun Yang, Jiawen Chen, Ming Li, Zhirong Yao
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
atopic dermatitis
intravenous immunoglobulin
large‐sized genomic deletion
Netherton syndrome
SPINK5
Online Access:https://doi.org/10.1002/mgg3.1600

Internet

https://doi.org/10.1002/mgg3.1600

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