ArticleAllergy2020
Comel-Netherton syndrome: A local skin barrier defect in the absence of an underlying systemic immunodeficiency.
Article in Allergy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025Guideline
- Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review.Frontiers in immunology · 2022Pooled it
- An Investigational Mechanism-Informed Therapy for Netherton Syndrome: Introduction to QRX003 and A Pediatric Compassionate-Use Case Report.Dermatology and therapy · 2026Review
- Netherton Syndrome in a preterm newborn presenting with erythroderma and temperature instability: a case report.BMC pediatrics · 2026Article
- Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study.Dermatology (Basel, Switzerland) · 2025Article
- Atopic dermatitis, primary atopic disorders, and the cutaneous microbiome: current understanding of an expanding field.Frontiers in pediatrics · 2025Review
- Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome.Journal of clinical immunology · 2024Article
- Recent advances in the epithelial barrier theory.International immunology · 2024Review
- Protease-Activated Receptor 2 in inflammatory skin disease: current evidence and future perspectives.Frontiers in immunology · 2024Review
- Article
- Biological treatments for pediatric Netherton syndrome.Frontiers in pediatrics · 2022Review
- A novel mutation inFrontiers in genetics · 2022Article
- Clinical Effectiveness of Free Upper Arm Medial Flap in Repairing Skin and Soft Tissue Defects of the Dorsum of the Hand.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.Frontiers in pediatrics · 2022Review
- Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.Applied microscopy · 2021Review
- Netherton syndrome associated toBMJ case reports · 2021Article
- Comel-Netherton syndrome: A local skin barrier defect in the absence of an underlying systemic immunodeficiency.Allergy · 2020Article
- Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.Case reports in dermatologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundComel-Netherton syndrome (NS) is a rare autosomal disease, characterized by severe skin disease, hair shaft defects, atopic diathesis, and increased susceptibility for skin infections. Since patients with NS suffer from recurrent infections, it has been hypothesized that an underlying immunodeficiency attributes to this. Here, we studied clinical and immunological characteristics of the cohort of NS patients in the Netherlands in order to identify whether potential immunodeficiencies result in the increased risk of infectious complications.
methodsPhenotypes were scored for severity of skin condition, specific hair shaft defects, atopy, and recurrent infections. Patients' blood samples were collected for quantification of serum immunoglobulin (Ig) levels, specific antibodies against Streptococcus pneumoniae, and allergen-specific IgE, as well as detailed immunophenotyping of blood leukocyte and lymphocyte subsets by flow cytometry.
resultsA total of 14 patients were included with age range 3-46 years and varying degrees of skin involvement. All patients presented with atopic symptoms (food allergy, n = 13; hay fever, n = 10; asthma, n = 7). Recurrent skin infections were common, particularly in childhood (n = 12). Low levels of specific antibodies against S pneumoniae were found in 10 of 11 evaluated patients. Detailed immunological analysis was performed on 9 adult patients. Absolute numbers of lymphocyte subsets and serum immunoglobulin levels were all within normal ranges.
conclusionMultidisciplinary evaluation of our national cohort showed no evidence for a severe, clinically relevant systemic immunodeficiency. Therefore, we conclude that in Dutch NS patients the increased risk of infections most likely results from the skin barrier disruption and that increased allergen penetration predisposes to allergic sensitization.
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Registered trials
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