目的:持续性人乳头瘤病毒感染(PHPVI)引起皮肤,肛门生殖器,还有粘膜疣.皮肤疣包括普通疣,Treeman综合征,疣状表皮发育不良,在其他人中。尽管随着基因组技术的发展,已经发表了更多关于PHPVI单基因易感性的报道,基因检测很少被纳入临床评估。为了鼓励更广泛的分子检测,我们编制了PHPVI的各种单基因病因列表。
方法:我们进行了系统的文献综述,以确定遗传,免疫学,和PHPVI患者的临床特点。
结果:40,687篇文章中有261篇符合纳入标准。在842名患者中,鉴定了83个PHPVI相关基因,包括42、6和35个基因,中度,因果关系的证据薄弱,分别。常染色体隐性(AR)遗传占主导地位(69%)。PHPVI发病年龄为10.8±8.6岁,四分位数范围为5-14年。GATA2,IL2RG,DOCK8,CXCR4,TMC6,TMC8和CIB1是最常见的PHPVI相关基因,具有很强的因果关系。大多数基因(83个中的74个)属于485个先天免疫错误(IEI)相关基因的目录,40个基因(54%)在非综合征性和综合征性联合免疫缺陷类别中代表。
结论:PHPVI至少有83种单基因病因,基因诊断对于有效治疗至关重要。
Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital, and mucosal
warts. Cutaneous
warts include common
warts, Treeman syndrome, and epidermodysplasia verruciformis, among others. Although more reports of monogenic predisposition to PHPVI have been published with the development of genomic technologies, genetic testing is rarely incorporated into clinical assessments. To encourage broader molecular testing, we compiled a list of the various monogenic etiologies of PHPVI.
We conducted a systematic literature
review to determine the genetic, immunological, and clinical characteristics of patients with PHPVI.
The inclusion criteria were met by 261 of 40,687 articles. In 842 patients, 83 PHPVI-associated genes were identified, including 42, 6, and 35 genes with strong, moderate, and weak evidence for causality, respectively. Autosomal recessive inheritance predominated (69%). PHPVI onset age was 10.8 ± 8.6 years, with an interquartile range of 5 to 14 years. GATA2,IL2RG,DOCK8, CXCR4, TMC6, TMC8, and CIB1 are the most frequently reported PHPVI-associated genes with strong causality. Most genes (74 out of 83) belong to a catalog of 485 inborn errors of immunity-related genes, and 40 genes (54%) are represented in the nonsyndromic and syndromic combined immunodeficiency categories.
PHPVI has at least 83 monogenic etiologies and a genetic diagnosis is essential for effective management.