{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:03:27Z","timestamp":1791975807645,"version":"4.4.0"},"reference-count":55,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T00:00:00Z","timestamp":1582243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["GNT1117687"],"award-info":[{"award-number":["GNT1117687"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Allergy"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Comel\u2010Netherton 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Phenotypes were scored for severity of skin condition, specific hair shaft defects, atopy, and recurrent infections. Patients\u2019 blood samples were collected for quantification of serum immunoglobulin (Ig) levels, specific antibodies against <jats:italic>Streptococcus<\/jats:italic> <jats:italic>pneumoniae,<\/jats:italic> and allergen\u2010specific IgE, as well as detailed immunophenotyping of blood leukocyte and lymphocyte subsets by flow cytometry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>A total of<\/jats:italic> 14 patients were included with age range 3\u201046\u00a0years and varying degrees of skin involvement. All patients presented with atopic symptoms (food allergy, n\u00a0=\u00a013; hay fever, n\u00a0=\u00a010; asthma, n\u00a0=\u00a07). Recurrent skin infections were common, particularly in childhood (n\u00a0=\u00a012). Low levels of specific antibodies against <jats:italic>S\u00a0pneumoniae<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Multidisciplinary 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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/all.14197","type":"journal-article","created":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T08:32:58Z","timestamp":1579854778000},"page":"1710-1720","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Comel\u2010Netherton syndrome: A local skin barrier defect in the absence of an underlying systemic immunodeficiency"],"prefix":"10.1111","volume":"75","author":[{"given":"Kira","family":"Stuvel","sequence":"first","affiliation":[{"name":"Department of Dermatology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0304-8977","authenticated-orcid":false,"given":"Jorn J.","family":"Heeringa","sequence":"additional","affiliation":[{"name":"Department of Immunology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virgil A. S. H.","family":"Dalm","sequence":"additional","affiliation":[{"name":"Department of Immunology Erasmus MC University Medical Center Rotterdam The Netherlands"},{"name":"Department of Internal Medicine Division of Clinical Immunology Erasmus MC University Medical Center Rotterdam The Netherlands"},{"name":"Academic Center for Rare Immunological Diseases (RIDC) Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruud W. J.","family":"Meijers","sequence":"additional","affiliation":[{"name":"Department of Immunology Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Els","family":"van Hoffen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan A. 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