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Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5

IntroductionNetherton syndrome (NS) is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. It is characterized by congenital ichthyosis, hair shaft abnormalities, and atopic manifestations. Previous reports suggest that intra...

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Principais autores: Yaning Guan, Qian Li, Yongjing Liu, Pingping Zhang, Maolin Huang, Yimin Guo, Jing Chen, Yan Chen, Zuochen Du, Pei Huang
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2025-09-01
Serier:Frontiers in Immunology
Fag:
SPINK5
Netherton syndrome
IVIG
immune modulation
immunophenotyping
Online adgang:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1658444/full
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