Clinico-immunological heterogeneity in Comel-Netherton syndrome

Background: Comel-Netherton syndrome (CN) is characterized by atopic-eczema -like skin abnormalities combined with linear ichthyotic lesions, hair shaf t abnormalities and atopy with high IgE levels. Objective: Five children wi th CN are described. In 2 of the 3 CN patients still alive, analysis of cyt okines regulating IgE synthesis was performed. Methods: In peripheral blood mononuclear cells and cultures of purified T cells, mRNA expression and pr otein 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 ato pic dermatitis patients and healthy children. Results: The 5 CN patients sh owed striking differences in disease severity and evolution. Marked differe nces were found in several cytokines in the 2 analysed CN patients. Low per centages of natural killer cells were observed in both CN patients. Conclus ion: The regulation of IgE production in patients with CN is varied and com plex. The CN patients were heterogeneous in terms of Th2 skewing. Copyright (C) 2001 S.Karger AG, Basel.