Clinico-immunological heterogeneity in Comèl-Netherton syndrome.
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.


CONCLUSIONS
The regulation of IgE production in patients with CN is varied and complex. The CN patients were heterogeneous in terms of Th2 skewing.
Van Gysel
D
D
Department of Paediatrics, O.L. Vrouw Hospital, Aalst, Belgium.
Koning
H
H
Baert
M R
MR
Savelkoul
H F
HF
Neijens
H J
HJ
Oranje
A P
AP
D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000378:metabolism; D003876:Dermatitis, Atopic / Q000276:immunology*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000276:immunology; D016113:Ichthyosiform Erythroderma, Congenital / Q000276:immunology* / Q000473:pathology*; D007073:Immunoglobulin E / Q000097:blood; D007223:Infant; D007371:Interferon-gamma / Q000378:metabolism; D007378:Interleukins / Q000378:metabolism; D007694:Killer Cells, Natural; D016131:Lymphocyte Subsets; D008297:Male; D013577:Syndrome; D013601:T-Lymphocytes / Q000276:immunology
D016207:Cytokines; D007378:Interleukins; D007073:Immunoglobulin E; D007371:Interferon-gamma