Clinico-Immunological Heterogeneity in Comèl-Netherton Syndrome

Vol. 202, No. 2, 2001

Free Abstract Article (Fulltext) Article (PDF 385 KB)

Clinical and Laboratory Investigations

Clinico-Immunological Heterogeneity in Comèl-Netherton Syndrome
D. Van Gysel^a,d, H. Koning^b,c, M.R.M. Baert^c, H.F.J. Savelkoul^c, H.J. Neijens^b, A.P. Oranje^d

^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

Address of Corresponding Author

Dermatology 2001;202:99-107 (DOI: 10.1159/000051607)

Key Words

Comèl-Netherton syndrome
Cytokines
Skin abnormalities
Hair abnormalities

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 gamma 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.

Author Contacts

Dr. A.P. Oranje, MD, PhD
Department of Dermatology and Venereology
University Hospital (Sophia) Rotterdam, dr. Molewaterplein 60
NL-3015 GJ Rotterdam (The Netherlands)
Tel. +31 10 4636656, Fax +31 10 2021274, E-Mail oranje@alkg.azr.nl

Article Information

Received: Received: December 20, 1999
Accepted: October 16, 2000
Number of Print Pages : 9
Number of Figures : 5, Number of Tables : 1, Number of References : 20

Medline Abstract (ID 11306829)

Download Citation

For non-native English speakers and international authors who would like assistance with their writing before submission, we suggest American Journal Experts for their research paper editing service.