Ontology type: schema:ScholarlyArticle Open Access: True
2013-12
AUTHORSDina Danso-Abeam, Jianguo Zhang, James Dooley, Kim A Staats, Lien Van Eyck, Thomas Van Brussel, Shari Zaman, Esther Hauben, Marc Van de Velde, Marie-Anne Morren, Marleen Renard, Christel Van Geet, Heidi Schaballie, Diether Lambrechts, Jinsheng Tao, Dean Franckaert, Stephanie Humblet-Baron, Isabelle Meyts, Adrian Liston
ABSTRACTBACKGROUND: Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation of TRPV3 as a cause of the keratotic manifestations of Olmsted syndrome. METHODS: Genetic, clinical and immunological profiling was performed on a case study patient with the clinical diagnosis of Olmsted syndrome. RESULTS: The patient was found to harbour a previously undescribed 1718G-C transversion in TRPV3, causing a G573A point mutation. In depth clinical and immunological analysis found multiple indicators of immune dysregulation, including frequent dermal infections, inflammatory infiltrate in the affected skin, hyper IgE production and elevated follicular T cells and eosinophils in the peripheral blood. CONCLUSIONS: These results provide the first comprehensive assessment of the immunological features of Olmsted syndrome. The systemic phenotype of hyper IgE and persistent eosinophilia suggest a primary or secondary role of immunological processes in the pathogenesis of Olmsted syndrome, and have important clinical consequences with regard to the treatment of Olmsted syndrome patients. More... »
PAGES79
http://scigraph.springernature.com/pub.10.1186/1750-1172-8-79
DOIhttp://dx.doi.org/10.1186/1750-1172-8-79
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/23692804
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]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-8-79'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-8-79'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-8-79'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1750-1172-8-79'
This table displays all metadata directly associated to this object as RDF triples.
334 TRIPLES
21 PREDICATES
64 URIs
37 LITERALS
25 BLANK NODES