Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.
复制标题
DOI：
10.1371/journal.pone.0044010
复制
发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Jouanguy E
中科院分区：
文献类型：
--
作者：
Crequer A;Picard C;Patin E;D'Amico A;Abhyankar A;Munzer M;Debré M;Zhang SY;de Saint-Basile G;Fischer A;Abel L;Orth G;Casanova JL;Jouanguy E
疣状表皮发育不良（EV）的特征是在其他健康个体中由一组特定的相关人乳头瘤病毒基因型（EV-HPV）引起的持续性皮肤病变。常染色体隐性（AR）EVER 1和EVER 2缺陷占已知EV病例的三分之二。AR RHOH缺乏症最近在两个兄弟姐妹中被描述为EV-HPV感染以及其他感染和肿瘤表现。我们在这里报告了一名19岁患者基于全外显子组发现的AR MST 1缺陷，该患者患有与EV-HPV、细菌和真菌感染相关的T细胞缺陷。MST 1缺乏症最近已被描述在7名患者从三个无关的激酶与深刻的T细胞缺乏症和各种病毒和细菌感染。该患者也是罕见ERCC 3变异的纯合子。我们的研究结果拓宽了MST 1缺乏症感染的临床范围，并提供了一种新的EV-HPV感染易感性遗传病因。结合最近发现的RHOH缺乏，他们表明T细胞参与了EV-HPV的控制，至少在一些个体中是这样。
Epidermodysplasia verruciformis (EV) is characterized by persistent cutaneous lesions caused by a specific group of related human papillomavirus genotypes (EV-HPVs) in otherwise healthy individuals. Autosomal recessive (AR) EVER1 and EVER2 deficiencies account for two thirds of known cases of EV. AR RHOH deficiency has recently been described in two siblings with EV-HPV infections as well as other infectious and tumoral manifestations. We report here the whole-exome based discovery of AR MST1 deficiency in a 19-year-old patient with a T-cell deficiency associated with EV-HPV, bacterial and fungal infections. MST1 deficiency has recently been described in seven patients from three unrelated kindreds with profound T-cell deficiency and various viral and bacterial infections. The patient was also homozygous for a rare ERCC3 variation. Our findings broaden the clinical range of infections seen in MST1 deficiency and provide a new genetic etiology of susceptibility to EV-HPV infections. Together with the recent discovery of RHOH deficiency, they suggest that T cells are involved in the control of EV-HPVs, at least in some individuals.
登录
查看更多内容
影响因子：
168.9
作者：
André-Schmutz, I;Le Deist, F;Cavazzana-Calvo, M
通讯作者：
Cavazzana-Calvo, M
DOI：
10.1084/jem.20101597
发表时间：
2010-10-25
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Byun M;Abhyankar A;Lelarge V;Plancoulaine S;Palanduz A;Telhan L;Boisson B;Picard C;Dewell S;Zhao C;Jouanguy E;Feske S;Abel L;Casanova JL
通讯作者：
Casanova JL
影响因子：
30.8
作者：
Abecasis, GR;Cherny, SS;Cardon, LR
通讯作者：
Cardon, LR
影响因子：
4.4
作者：
Eidenschenk, Celine;Jouanguy, Enunanuelle;Casanova, Jean-Laurent
通讯作者：
Casanova, Jean-Laurent
DOI：
10.1111/j.1749-6632.2010.05834.x
发表时间：
2010-01-01
期刊：
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS
影响因子：
--
作者：
Alcais, Alexandre;Quintana-Murci, Lluis;Casanova, Jean-Laurent
通讯作者：
Casanova, Jean-Laurent