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Article

Comèl-Netherton syndrome defined as primary immunodeficiency.

The Journal of allergy and clinical immunology - 1 Sept 2009

Renner Ellen D, Hartl Dominik, Rylaarsdam Stacey, Young Marguerite L, Monaco-Shawver Linda, Kleiner Gary, Markert M Louise, Stiehm E Richard, Belohradsky Bernd H, Upton Melissa P, Torgerson Troy R, Orange Jordan S, Ochs Hans D

Abstract excerpt

BACKGROUND: Mutations in serine protease inhibitor Kazal-type 5 (SPINK5), encoding the serine protease inhibitor lympho-epithelial Kazal-type 5 related inhibitor (LEKTI), cause Comèl-Netherton syndrome, an autosomal-recessive disease characterized by congenital ichthyosis, bamboo hair, and atopic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19683336
DOI: 10.1016/j.jaci.2009.06.009
PMCID: PMC3685174

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19683336-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comèl-Netherton syndrome defined as primary immunodeficiency.PMID 19683336Read ↗

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

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

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.Semantic proximity Read ↗

When less is more: primary immunodeficiency with an autoinflammatory kick.Semantic proximity Read ↗

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

Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.Semantic proximity Read ↗

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.Semantic proximity Read ↗

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

Netherton Syndrome in a Mother and Her Two Children.Semantic proximity Read ↗

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

A Novel MSN Mutation Impairs CD4+ T cell Differentiation and Drives Autoantibody Production.Semantic proximity Read ↗

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.Semantic proximity Read ↗

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