generalized verrucosis

  • 文章类型: Review
    广泛性疣状(GV)是一组免疫缺陷性疾病,伴有广泛的人乳头瘤病毒感染。我们重新审视了两例因先天性白介素7缺乏症而成功用全身性类维生素A治疗的GV病例。我们还对使用全身性类维生素A治疗GV的文献进行了综述。我们的评论表明,在GV病例中,全身性类维生素A是治疗顽固性疣病变的安全有效的选择。
    Generalized verrucosis (GV) is a group of immunodeficiency disorders accompanied by widespread human papillomavirus infection. We revisit two cases of GV due to congenital interleukin-7 deficiency successfully treated with systemic retinoids. We also present a review of the literature on the use of systemic retinoids to treat GV. Our review suggests that systemic retinoids are a safe and effective option for managing recalcitrant wart lesions in cases of GV.
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  • 文章类型: Journal Article
    迄今为止,已经报道了超过200种类型的人乳头瘤病毒(HPV),并且已经与各种皮肤病相关。在皮肤病中,病毒疣是最常见的与HPV相关的报道。疣状表皮发育不良(EV)由三种类型组成:典型的EV是一种常染色体隐性遗传性疾病,具有TMC6/TMC8基因突变,非典型EV是由于各种基因突变导致免疫缺陷,获得性EV是由于获得性免疫缺陷而发展的。广义疣状与EV的不同之处在于它涉及许多疣状结节(主要在四肢),在组织病理学上没有蓝色细胞,如在EV中所见,以及皮肤α-HPV和β-HPV感染。HPV诱导的皮肤恶性肿瘤包括EV患者中由β-HPV(尤其是HPV5型和8型)引起的鳞状细胞癌(SCC)。器官移植受者,和健康的个体,粘膜高危型HPV感染引起的外阴和指甲部SCC。β-HPV的致癌作用与日光有关。粘膜高风险HPV相关癌也可能是性传播的。我们专注于Bowen的指甲病,长期以来一直是我们研究的主题,最近在皮肤病学领域脱颖而出。
    More than 200 types of human papillomavirus (HPV) have been reported to date and have been associated with various dermatological diseases. Among dermatological diseases, viral verrucae are the most commonly reported to be associated with HPV. Epidermodysplasia verruciformis (EV) consists of three types: typical EV is an autosomal recessive genetic disorder with TMC6/TMC8 gene mutations, atypical EV develops due to various gene mutations that cause immunodeficiency, and acquired EV develops due to acquired immunodeficiency. Generalized verrucosis differs from EV in that it involves numerous verrucous nodules (mainly on the limbs), histopathologically no blue cells as seen in EV, and infection with cutaneous α-HPVs as well as β-HPVs. HPV-induced skin malignancies include squamous cell carcinoma (SCC) caused by β-HPV (especially HPV types 5 and 8) in EV patients, organ transplant recipients, and healthy individuals, and SCC of the vulva and nail unit caused by mucosal high-risk HPV infection. Carcinogenesis of β-HPV is associated with sunlight. Mucosal high-risk HPV-associated carcinomas may also be sexually transmitted. We focused on Bowen\'s disease of the nail, which has been the subject of our research for a long time and has recently come to the fore in the field of dermatology.
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  • 文章类型: Case Reports
    我们报告了2例广泛性疣状(GV)患者纯合性IL7起始密码子中的新突变。与以前的报告不同,IL-7缺乏伴有CD4T淋巴细胞减少症,我们的一名患者的循环CD4T细胞没有耗尽,提示GV的发病机制,而不是T细胞发育不良。
    We report 2 generalized verrucosis (GV) patients homozygous for a novel mutation in the start codon of IL7. Unlike the previous report in which IL-7 deficiency accompanied CD4 T lymphocytopenia, circulating CD4 T cells were not depleted in one of our patients, suggesting a GV pathogenesis other than poor T-cell development.
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  • 文章类型: Journal Article
    背景:广泛性疣(GV)是一种慢性和进行性皮肤人乳头瘤病毒(HPV)感染,导致多发性疣,并与获得性或遗传性免疫缺陷有关。我们确定了一个血缘阿拉伯家族,表现为GV和复发性细菌和病毒感染,与炎症性肠病(IBD)相关。
    目的:为了鉴定引起GV的突变基因,复发性感染和IBD,在这个家庭。
    方法:外周血单个核细胞流式细胞术,以及T细胞的增殖和细胞周期测定。全外显子组测序用于检测候选突变基因,假设一种常染色体隐性遗传方式.来自患者的皮肤成纤维细胞,将母体和对照与山梨糖醇孵育以检测TAOK2的磷酸化能力,并进行克隆形成试验以评估成纤维细胞集落的存活和增殖能力.
    结果:尽管T细胞和B细胞免疫分型正常,与杂合家族成员和对照相比,患者活化后的T细胞增殖受损。遗传分析确定了一个罕见的纯合错义变异,c.2098C>T(p。R700C)在TAOK2基因中,与家族中的疾病表型分离。TAOK2编码TAO2激酶,p38-MAPK级联中的丝裂原活化蛋白激酶激酶激酶(MAP3K)。预计该突变会破坏其正常折叠和分子相互作用;然而,未观察到TAOK2激酶活性对其下游靶标的损害,MEK3/6,在患者的成纤维细胞中。尽管激酶活性正常,发现患者皮肤成纤维细胞的存活率/增殖明显更高。
    结论:TAOK2中的一个突变似乎引起一种新形式的原发性免疫缺陷,其特征在于活化时T细胞增殖受损。这种GV的新原因进一步支持了p38-MAPK通路在抗HPV免疫反应中的重要性。也可能与IBD的发病机制有关。
    This article has been retracted: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal). This article has been retracted at the request of the Editor-in-Chief. The authors have notified the Editor of a serious error in their initial assumptions and, therefore, the overall conclusions presented in this article. The causative mutation is essential for the analysis and, therefore, it is difficult to correct part of the article. Had the Editor been aware of the issues flagged by the authors, the article would not have been accepted for publication. The authors have requested that the article is retracted because their data and conclusions are incorrect, and the Editor has agreed to retract the article.
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