來(lái)自法國(guó)巴黎大學(xué)（Université de Paris René Descartes）Laboratoire de Génétique Humaine des Maladies Infectieuses實(shí)驗(yàn)室，上海交通大學(xué)瑞金醫(yī)院基因組與生命科學(xué)中法實(shí)驗(yàn)室，以及Scripps研究院等處的研究人員發(fā)現(xiàn)了一個(gè)單基因突變與對(duì)一個(gè)單個(gè)疾病的免疫抵抗力的一對(duì)一的關(guān)系,，這與之前所認(rèn)為的多個(gè)基因的作用使健康人群易受一種常見疾病的感染的理解并不相同。這一研究成果公布在本期（9月15日）《Science》雜志上,。
單純皰疹腦炎(herpes simplex encephalitis,，HSE)是西方國(guó)家常見的一種 腦炎,，其發(fā)病機(jī)理至今尚不清楚。Armanda Casrouge等人發(fā)現(xiàn)一個(gè)單基因缺陷也許是單純皰疹腦炎的罪魁禍?zhǔn)?，這一發(fā)現(xiàn)也許對(duì)我們?nèi)绾嗡伎紓魅镜倪z傳抵抗有令人驚訝的影響，它也可能幫助解釋為什么只有很少的人患這類腦炎,。
研究人員在一個(gè)叫UNC-93B的蛋白中發(fā)現(xiàn)了一個(gè)罕見的,、使兩個(gè)兒童易患單純皰疹腦炎的突變，該蛋白被認(rèn)為與細(xì)胞的抗病毒響應(yīng)有關(guān),。這兩位兒童對(duì)其它的病原體有強(qiáng)的免疫應(yīng)答,，表明該基因突變只讓他們對(duì)單純皰疹病毒1變得易感。這說(shuō)明了一個(gè)單個(gè)基因突變可能與對(duì)一個(gè)單個(gè)疾病的免疫抵抗力的一對(duì)一的關(guān)系,。
英文原文：
Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency
Armanda Casrouge, Shen-Ying Zhang, Céline Eidenschenk, Emmanuelle Jouanguy, Anne Puel, Kun Yang, Alexandre Alcais, Capucine Picard, Nora Mahfoufi, Nathalie Nicolas, Lazaro Lorenzo, Sabine Plancoulaine, Brigitte Sénéchal, Frédéric Geissmann, Koichi Tabeta, Kasper Hoebe, Xin Du, Richard L Miller, Bénédicte Héron, Cyril Mignot, Thierry Billette de Villemeur, Pierre Lebon, Olivier Dulac, Flore Rozenberg, Bruce Beutler, Marc Tardieu, Laurent Abel, Jean-Laurent Casanova
Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is the most common form of sporadic viral encephalitis in western countries. Its pathogenesis remains unclear, as it affects otherwise healthy patients and only a small minority of HSV-1-infected individuals. Here, we elucidate a genetic etiology for HSE in two children with autosomal recessive deficiency in the intracellular protein UNC-93B, resulting in impaired cellular interferon (IFN)-alpha/beta and -lambda antiviral responses. HSE can result from a single-gene immunodeficiency that does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. Other severe infectious diseases may also reflect monogenic disorders of immunity that do not predispose to multiple infections.
