Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency-Reference-Cited by-同舟云学术

Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

Published:2006-10-13 Issue:5797 Volume:314 Page:308-312
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Casrouge Armanda¹²³⁴⁵,Zhang Shen-Ying¹²³⁴⁵,Eidenschenk Céline¹²³⁴⁵,Jouanguy Emmanuelle¹²³⁴⁵,Puel Anne¹²³⁴⁵,Yang Kun¹²³⁴⁵,Alcais Alexandre¹²³⁴⁵,Picard Capucine¹²³⁴⁵,Mahfoufi Nora¹²³⁴⁵,Nicolas Nathalie¹²³⁴⁵,Lorenzo Lazaro¹²³⁴⁵,Plancoulaine Sabine¹²³⁴⁵,Sénéchal Brigitte¹²³⁴⁵,Geissmann Frédéric¹²³⁴⁵,Tabeta Koichi¹²³⁴⁵,Hoebe Kasper¹²³⁴⁵,Du Xin¹²³⁴⁵,Miller Richard L.¹²³⁴⁵,Héron Bénédicte¹²³⁴⁵,Mignot Cyril¹²³⁴⁵,de Villemeur Thierry Billette¹²³⁴⁵,Lebon Pierre¹²³⁴⁵,Dulac Olivier¹²³⁴⁵,Rozenberg Flore¹²³⁴⁵,Beutler Bruce¹²³⁴⁵,Tardieu Marc¹²³⁴⁵,Abel Laurent¹²³⁴⁵,Casanova Jean-Laurent¹²³⁴⁵

Affiliation:

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.

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-α/β and -λ 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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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