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A splice donor in influences keratinocyte immortalization by beta-HPV49.
J Virol
January 2025
Institute for Medical Virology and Epidemiology of Viral Diseases, University of Tuebingen, Tuebingen, Germany.
Human papillomaviruses (HPV) from the genus beta have been implicated in the development of cutaneous squamous cell cancer in and organ transplant patients. In contrast to alpha-high-risk HPV, which cause ano-genital and oropharyngeal cancers, beta-HPV replication is not well understood. The beta-HPV49 transcriptome was analyzed by RNA sequencing using stable keratinocyte cell lines maintaining high levels of extrachromosomally replicating E8- genomes, which can be established due to a lack of the viral E8^E2 repressor protein.
View Article and Find Full Text PDFMmuPV1 infection of Tmc6/Ever1 or Tmc8/Ever2 deficient FVB mice as a model of βHPV in typical epidermodysplasia verruciformis.
PLoS Pathog
January 2025
Department of Pathology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Typical epidermodysplasia verruciformis (EV) is a rare, autosomal recessive disorder characterized by an unusual susceptibility to infection with specific skin-trophic types of human papillomavirus, principally betapapillomaviruses, and a propensity for developing malignant skin tumors in sun exposed regions. Its etiology reflects biallelic loss-of-function mutations in TMC6 (EVER1), TMC8 (EVER2) or CIB1. A TMC6-TMC8-CIB1 protein complex in the endoplasmic reticulum is hypothesized to be a restriction factor in keratinocytes for βHPV infection.
View Article and Find Full Text PDFAcquired Epidermodysplasia Verruciformis With HPV5 RNA Expression Using RNA Chromogenic In Situ Hybridization.
J Cutan Pathol
November 2024
Department of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Acquired epidermodysplasia verruciformis is a rare condition, secondary to a state of acquired immunosuppression and is characterized by a susceptibility to infection by human papillomavirus of the beta genus, which carries an increased risk of developing non-melanoma skin cancer. We report the case of a 39-year-old woman receiving a kidney transplant, treated with prednisone and tacrolimus, who after starting immunosuppressive therapy developed papules and warty plaques in the inguinal region. A skin biopsy was performed that was consistent with epidermodysplasia verruciformis, so it was decided to adjust immunosuppressive therapy to everolimus, which achieved a reduction in lesions.
View Article and Find Full Text PDFCase Report of Two Independent Moroccan Families with Syndromic Epidermodysplasia Verruciformis and STK4 Deficiency.
Viruses
September 2024
Laboratory of Clinical Immunology-Inflammation and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, Morocco.
Article Synopsis
- Epidermodysplasia verruciformis (EV) is a rare skin condition linked to β-human papillomaviruses (HPV) in immunodeficient individuals, presenting as flat warts and pityriasis-like lesions.
- The study details three patients from two families with syndromic EV, identified through whole exome sequencing to have new homozygous variants in the STK4 gene, resulting in a premature stop codon.
- STK4 deficiency causes a combined immunodeficiency leading to increased susceptibility to various infections and autoimmune issues, as evidenced by immunophenotyping showing significant CD4 T cell deficiency in the patients.
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