Herpes simplex virus encephalitis in human UNC-93B deficiency |
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Authors: | 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 |
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Institution: | Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes, INSERM, U550, Faculté de Médecine Necker, Paris 75015, France. |
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Abstract: | 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. |
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