Casrouge Armanda, Zhang Shen-Ying, Eidenschenk Céline, Jouanguy Emmanuelle, Puel Anne, Yang Kun, Alcais Alexandre, Picard Capucine, Mahfoufi Nora, Nicolas Nathalie, Lorenzo Lazaro, Plancoulaine Sabine, Sénéchal Brigitte, Geissmann Frédéric, Tabeta Koichi, Hoebe Kasper, Du Xin, Miller Richard L, Héron Bénédicte, Mignot Cyril, de Villemeur Thierry Billette, Lebon Pierre, Dulac Olivier, Rozenberg Flore, Beutler Bruce, Tardieu Marc, Abel Laurent, Casanova Jean-Laurent
Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes, INSERM, U550, Faculté de Médecine Necker, Paris 75015, France.
Science. 2006 Oct 13;314(5797):308-12. doi: 10.1126/science.1128346. Epub 2006 Sep 14.
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-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.
单纯疱疹病毒1型（HSV-1）脑炎（HSE）是西方国家散发性病毒性脑炎最常见的形式。其发病机制尚不清楚，因为它影响的是原本健康的患者，且仅在少数HSV-1感染者中出现。在此，我们阐明了两名患有常染色体隐性细胞内蛋白UNC-93B缺陷的儿童患HSE的遗传病因，该缺陷导致细胞α/β干扰素和λ干扰素抗病毒反应受损。与大多数已知的原发性免疫缺陷不同，HSE可能由一种单基因免疫缺陷引起，这种缺陷不会损害对大多数病原体的免疫力。其他严重传染病也可能反映免疫单基因疾病。
