Associated Papers
SPINK5 variants drive clinical variability in Netherton syndrome through Th2/Th17 skewing and influence therapeutic outcomes.
Yorgun Altunbas M et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2026
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5.
Guan Y et al.
Frontiers in Immunology, 2025
Genetic testing and new variants in diagnosis of congenital ichthyoses.
Salo M et al.
Molecular Genetics & Genomic Medicine, 2024
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
New compound heterozygous SPINK5 mutations in a Chinese infant with Netherton syndrome.
Wang Q et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Frank DN et al.
Journal of Medical Genetics, 2021
Skin Microbiota and Clinical Associations in Netherton Syndrome.
Sillanpää V et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Immune cell phenotype and functional defects in Netherton syndrome.
Eränkö E et al.
Orphanet Journal of Rare Diseases, 2018
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
Hannula-Jouppi K et al.
Jama Dermatology, 2016
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
Sprecher E et al.
The Journal of Investigative Dermatology, 2001