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
  • 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.