Abstract
Human papillomaviruses (HPVs) infect mucosal or cutaneous stratified epithelia. There are 5 genera and more than 200 types of HPV, each with a specific tropism and virulence. HPV infections are typically asymptomatic or result in benign tumors, which may be disseminated or persistent in rare cases, but a few oncogenic HPVs can cause cancers. This review deals with the human genetic and immunological basis of interindividual clinical variability in the course of HPV infections of the skin and mucosae. Typical epidermodysplasia verruciformis (EV) is characterized by β-HPV-driven flat wart-like and pityriasis-like cutaneous lesions and non-melanoma skin cancers in patients with inborn errors of EVER1-EVER2-CIB1-dependent skin-intrinsic immunity. Atypical EV is associated with other infectious diseases in patients with inborn errors of T cells. Severe cutaneous or anogenital warts, including anogenital cancers, are also driven by certain α-, γ-, μ or ν-HPVs in patients with inborn errors of T lymphocytes and antigen-presenting cells. The genetic basis of HPV diseases at other mucosal sites, such as oral multifocal epithelial hyperplasia or juvenile recurrent respiratory papillomatosis (JRRP), remains poorly understood. The human genetic dissection of HPV-driven lesions will clarify the molecular and cellular basis of protective immunity to HPVs, and should lead to novel diagnostic, preventive, and curative approaches in patients.
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Acknowledgements
I would like to thank Jean-Laurent Casanova and Emmanuelle Jouanguy for their critical review of this manuscript and helpful suggestions. I would also like to thank the members of the Human Genetics of Infectious Diseases Laboratory for helpful discussions.
This work was funded, in part, by the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH) Clinical and Translational Science Award (CTSA) program (UL1TR001866), NIH (R21AI107508, R01AI143810), the French National Research Agency (ANR) under the ‘Investments for the future’ program (ANR-10-IAHU-01), Integrative Biology of Emerging Infectious Diseases Laboratoire d’Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the Rockefeller University, Institut National de la Santé et de la Recherche Médicale (INSERM), the Howard Hughes Medical Institute, Paris University, and the St. Giles Foundation.
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Béziat, V. Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis. Hum Genet 139, 919–939 (2020). https://doi.org/10.1007/s00439-020-02183-x
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DOI: https://doi.org/10.1007/s00439-020-02183-x