Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis

被引:39
作者
Beziat, Vivien [1 ,2 ,3 ]
机构
[1] Necker Hosp Sick Children, Inst Natl Sante & Rech Med INSERM UMR 1163, Necker Branch, Lab Human Genet Infect Dis, Paris, EU, France
[2] Univ Paris, Imagine Inst, Paris, EU, France
[3] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA
基金
美国国家卫生研究院;
关键词
STEM-CELL TRANSPLANTATION; RECURRENT RESPIRATORY PAPILLOMATOSIS; SEVERE COMBINED IMMUNODEFICIENCY; FOCAL EPITHELIAL HYPERPLASIA; COTTONTAIL RABBIT PAPILLOMAVIRUS; CUTANEOUS HUMAN PAPILLOMAVIRUSES; EPIDERMAL LANGERHANS CELLS; BUSCHKE-LOWENSTEIN TUMOR; 3-KINASE DELTA SYNDROME; LIGASE IV MUTATIONS;
D O I
10.1007/s00439-020-02183-x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 beta-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 alpha-, gamma-, mu or nu-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.
引用
收藏
页码:919 / 939
页数:21
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