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Article

Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.

The Journal of investigative dermatology - 1 May 2008

Komatsu Nahoko, Saijoh Kiyofumi, Jayakumar Arumugam, Clayman Gary L, Tohyama Mikiko, Suga Yasushi, Mizuno Yuki, Tsukamoto Katsuhiko, Taniuchi Katsushige, Takehara Kazuhiko, Diamandis Eleftherios P

Abstract excerpt

Netherton syndrome (NS) is a congenital ichthyosiform dermatosis caused by serine protease inhibitor Kazal-type 5 (SPINK5) mutations. Tissue kallikreins (KLKs) and lymphoepithelial Kazal-type-related inhibitor (LEKTI) (SPINK5 product) may contribute to the balance of serine proteases/inhibitors in skin and influence skin barrier function and desquamation. SPINK5 mutations, causing NS, lead to truncated LEKTI;...

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Identifiers

PMID: 17989726
DOI: 10.1038/sj.jid.5701153

Genes

SPINK5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.PMID 17989726Read ↗

Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides.Semantic proximity Read ↗

Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.Semantic proximity Read ↗

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.Semantic proximity Read ↗

Immunological phenotype and skin modeling of Netherton syndrome.Semantic proximity Read ↗

SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.Semantic proximity Read ↗

Netherton syndrome: mutation analysis of two Taiwanese families.Semantic proximity Read ↗

Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome.Semantic proximity Read ↗

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read ↗

Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

Identification of Lympho-Epithelial Kazal-Type Inhibitor 2 in Human Skin as a Kallikrein-Related Peptidase 5-Specific Protease InhibitorSemantic proximity Read ↗

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.Semantic proximity Read ↗

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