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Table of Contents
Vol. 202, No. 2, 2001
Issue release date: 2001
Dermatology 2001;202:99–107
(DOI:10.1159/000051607)

Clinico-Immunological Heterogeneity in Comèl-Netherton Syndrome

van Gysel D. · Koning H. · Baert M.R.M. · Savelkoul H.F.J. · Neijens H.J. · Oranje A.P.
aDepartment of Paediatrics, O.L. Vrouw Hospital, Aalst, Belgium; bDepartment of Paediatrics, University Hospital (Sophia) Rotterdam, cDepartment of Immunology, Erasmus University Rotterdam, and dDepartment of Dermatology and Venereology, University Hospital Rotterdam, and Erasmus University Rotterdam, The Netherlands

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Abstract

Background: Comèl-Netherton syndrome (CN) is characterized by atopic-eczema-like skin abnormalities combined with linear ichthyotic lesions, hair shaft abnormalities and atopy with high IgE levels. Objective: Five children with CN are described. In 2 of the 3 CN patients still alive, analysis of cytokines regulating IgE synthesis was performed. Methods: In peripheral blood mononuclear cells and cultures of purified T cells, mRNA expression and protein production of interleukin 4 (IL-4), IL-13, IL-5 and interferon γ were analysed. The results were compared with the values in age-matched atopic dermatitis patients and healthy children. Results: The 5 CN patients showed striking differences in disease severity and evolution. Marked differences were found in several cytokines in the 2 analysed CN patients. Low percentages of natural killer cells were observed in both CN patients. Conclusion: The regulation of IgE production in patients with CN is varied and complex. The CN patients were heterogeneous in terms of Th2 skewing.



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    External Resources

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