Ontology highlight
ABSTRACT:
SUBMITTER: Crequer A
PROVIDER: S-EPMC3428089 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Crequer Amandine A Troeger Anja A Patin Etienne E Ma Cindy S CS Picard Capucine C Pedergnana Vincent V Fieschi Claire C Lim Annick A Abhyankar Avinash A Gineau Laure L Mueller-Fleckenstein Ingrid I Schmidt Monika M Taieb Alain A Krueger James J Abel Laurent L Tangye Stuart G SG Orth Gérard G Williams David A DA Casanova Jean-Laurent JL Jouanguy Emmanuelle E
The Journal of clinical investigation 20120801 9
Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by increased susceptibility to specific human papillomaviruses, the betapapillomaviruses. These EV-HPVs cause warts and increase the risk of skin carcinomas in otherwise healthy individuals. Inactivating mutations in epidermodysplasia verruciformis 1 (EVER1) or EVER2 have been identified in most, but not all, patients with autosomal recessive EV. We found that 2 young adult siblings presenting with T cell deficiency an ...[more]