Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

doi:10.1126/science.1128346

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Originally published in Science Express on 14 September 2006
Science 13 October 2006:
Vol. 314. no. 5797, pp. 308 - 312
DOI: 10.1126/science.1128346

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Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

Armanda Casrouge,¹^* Shen-Ying Zhang,¹^,2^* Céline Eidenschenk,¹^* Emmanuelle Jouanguy,¹^,2^* Anne Puel,¹ Kun Yang,¹^,2 Alexandre Alcais,¹ Capucine Picard,¹^,3 Nora Mahfoufi,¹ Nathalie Nicolas,¹ Lazaro Lorenzo,¹ Sabine Plancoulaine,¹ Brigitte Sénéchal,⁴ Frédéric Geissmann,⁴ Koichi Tabeta,⁵ Kasper Hoebe,⁵ Xin Du,⁵ Richard L. Miller,⁶ Bénédicte Héron,⁷ Cyril Mignot,⁷ Thierry Billette de Villemeur,⁷ Pierre Lebon,⁸ Olivier Dulac,⁹ Flore Rozenberg,⁸ Bruce Beutler,⁵ Marc Tardieu,¹⁰ Laurent Abel,¹ Jean-Laurent Casanova¹^,2^,11

Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is the mostcommon form of sporadic viral encephalitis in western countries.Its pathogenesis remains unclear, as it affects otherwise healthypatients and only a small minority of HSV-1–infected individuals.Here, we elucidate a genetic etiology for HSE in two childrenwith autosomal recessive deficiency in the intracellular proteinUNC-93B, resulting in impaired cellular interferon- ${alpha}$ /ßand - ${lambda}$ antiviral responses. HSE can result from a single-geneimmunodeficiency that does not compromise immunity to most pathogens,unlike most known primary immunodeficiencies. Other severe infectiousdiseases may also reflect monogenic disorders of immunity.

¹ Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes, INSERM, U550, Faculté de Médecine Necker, Paris 75015, France.
² French-Chinese Laboratory of Genomics and Life Sciences, Rui-jin Hospital, Shanghai Jiaotong University, Shanghai 200025, China.
³ Centre d'Etude des Déficits Immunitaires, Hôpital Necker, Paris 75015, France.
⁴ Laboratoire d'Etude des Cellules Mononucléées, Hôpital Necker, Paris 75015, France.
⁵ Scripps Research Institute, La Jolla, CA 92037, USA.
⁶ 3M Center, St. Paul, MN 55144, USA.
⁷ Service de Neurologie Pédiatrique, Hôpital Trousseau, Paris 75012, France.
⁸ Service de Virologie, Hôpital Saint-Vincent de Paul, Paris 75014, France.
⁹ Service de Neurologie Pédiatrique, Hôpital Necker, Paris 75015, France.
¹⁰ Service de Neurologie Pédiatrique et INSERM U802, Hôpital de Bicêtre, Kremlin-Bicêtre 94270, France.
¹¹ Unité d'Immunologie et d'Hématologie Pédiatriques, Hôpital Necker, Paris 75015, France.

^* These authors contributed equally to this work.

Present address: Niigata University Graduate School of Medicaland Dental Sciences, Niigata 951-8514, Japan.

To whom correspondence should be addressed. E-mail: casanova{at}necker.fr

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