Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5
This study reports a novel compound heterozygous <i>SPINK5</i> mutation in an infant with NS, comprising a large deletion and c.1258A>G polymorphism, resulting in LEKTI deficiency and immune dysregulation. IVIG therapy effectively alleviated clinical symptoms and restored immune balance, highlighting its potential as a therapeutic option for NS and related immunodeficiency disorders.
Authors
- Zuochen Du (ORCID: https://orcid.org/0000-0002-4537-6672)
- Yimin Guo
- Qian Li (ORCID: https://orcid.org/0000-0003-2616-3118)
- Jing Chen (ORCID: https://orcid.org/0000-0001-7130-7331)
- Ping Zhang (ORCID: https://orcid.org/0000-0001-9163-6191)
- Yan Chen (ORCID: https://orcid.org/0000-0002-2354-230X)
- Yifu Guan (ORCID: https://orcid.org/0000-0003-2566-7998)
- Pei Huang
- Maolin Huang
- Yongjing Liu (ORCID: https://orcid.org/0000-0001-6746-3913)
Institutions
- Zunyi Medical University (CN)
- First People’s Hospital of Zunyi (CN)
- Affiliated Hospital of Zunyi Medical College (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-09-25
- DOI
- https://doi.org/10.3389/fimmu.2025.1658444
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Health Commission of Guizhou Province
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation