Herpes simplex virus encephalitis in human UNC-93B deficiency

Science. 2006 Oct 13;314(5797):308-12. doi: 10.1126/science.1128346.

Armanda Casrouge ¹, 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

Affiliations

Affiliation

1 Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes, INSERM, U550, Faculté de Médecine Necker, Paris 75015, France.

PMID: 16973841 DOI: 10.1126/science.1128346

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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