Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.
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de Jong SJ
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York NY, United States.
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Imahorn E
Department of Biomedicine, University Hospital of Basel, University of Basel, Basel, Switzerland.
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Itin P
Department of Biomedicine, University Hospital of Basel, University of Basel, Basel, Switzerland.
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Uitto J
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, United States.
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Orth G
Pasteur Institute, Paris, France.
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Jouanguy E
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York NY, United States.
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Casanova JL
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York NY, United States.
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Burger B
Department of Biomedicine, University Hospital of Basel, University of Basel, Basel, Switzerland.
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Published in:
- Frontiers in microbiology. - 2018
English
Epidermodysplasia verruciformis (EV) is an autosomal recessive skin disorder with a phenotype conditional on human beta-papillomavirus (beta-HPV) infection. Such infections are common and asymptomatic in the general population, but in individuals with EV, they lead to the development of plane wart-like and red or brownish papules or pityriasis versicolor-like skin lesions, from childhood onwards. Most patients develop non-melanoma skin cancer (NMSC), mostly on areas of UV-exposed skin, from the twenties or thirties onwards. At least half of the cases of typical EV are caused by biallelic loss-of-function mutations of TMC6/EVER1 or TMC8/EVER2. The cellular and molecular basis of disease in TMC/EVER-deficient patients is unknown, but a defect of keratinocyte-intrinsic immunity to beta-HPV is suspected. Indeed, these patients are not susceptible to other infectious diseases and have apparently normal leukocyte development. In contrast, patients with an atypical form of EV due to inborn errors of T-cell immunity invariably develop clinical symptoms of EV in the context of other infectious diseases. The features of the typical and atypical forms of EV thus suggest that the control of beta-HPV infections requires both EVER1/EVER2-dependent keratinocyte-intrinsic immunity and T cell-dependent adaptive immunity.
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Language
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Open access status
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gold
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Persistent URL
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https://sonar.ch/global/documents/179686
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