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Issue title: Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
Article type: Research Article
Authors: Patel, Tejas | Morrison, L. Katie; | Rady, Peter; | Tyring, Stephen;
Affiliations: Center for Clinical Studies, University of Texas Health Science Center, Houston, TX, USA | Department of Dermatology, University of Texas Health Science Center, Houston, TX, USA
Note: [] Corresponding author: Stephen Tyring, MD, Center for Clinical Studies, 6655 Travis, Suite 120, Houston, TX 77030, USA. Tel.: +1 713 528 8818 ext. 1211; Fax: +1 713 528 8848; E-mail: styring@ccstexas.com
Abstract: Purpose of review: Epidermodysplasia verruciformis has been addressed in depth in the recent literature despite its rarity. The disease is characterized by a persistence in human papillomavirus infections and development of cutaneous malignancies, usually happening more frequently and at a younger age than in the general population. Because of the role of immunodeficiency to viral antigens eventually leading to cancer, EV has become a model for understanding a viral role in cutaneous oncogenesis. Susceptibility loci for EV have been mapped and encoded protein functions are becoming better understood. Discoveries of novel mutations and further study of EV-associated HPV serotypes in lesional and nonlesional skin of affected patients and the general population may help generate a cohesive theory regarding the true role of a defective immune barrier in oncogenesis.
Keywords: Cutaneous oncogenesis, epidermodysplasia verruciformis, epidermodysplasia verruciformis-human papillomavirus
DOI: 10.3233/DMA-2010-0733
Journal: Disease Markers, vol. 29, no. 3-4, pp. 199-206, 2010
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