Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency
Délégation Paris 5 · Scripps Research Institute · +5 more institutions
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.
Citation impact
- FWCI
- 32.93
- Percentile
- 100%
- References
- 29
Authors
28- ACArmanda CasrougeCorresponding
Délégation Paris 5, Scripps Research Institute, Hôpital Necker-Enfants Malades, Inserm, Centre de Référence Déficits Immunitaires Héréditaires, Shanghai Institute of Hematology, Human Genetic of Infectious Diseases
- SZShen‐Ying ZhangCorresponding
Délégation Paris 5, Scripps Research Institute, Hôpital Necker-Enfants Malades, Inserm, Centre de Référence Déficits Immunitaires Héréditaires, Shanghai Institute of Hematology, Human Genetic of Infectious Diseases
- CECéline EidenschenkCorresponding
Délégation Paris 5, Scripps Research Institute, Hôpital Necker-Enfants Malades, Inserm, Centre de Référence Déficits Immunitaires Héréditaires, Shanghai Institute of Hematology, Human Genetic of Infectious Diseases
- EJEmmanuelle JouanguyCorresponding
Délégation Paris 5, Scripps Research Institute, Hôpital Necker-Enfants Malades, Inserm, Centre de Référence Déficits Immunitaires Héréditaires, Shanghai Institute of Hematology, Human Genetic of Infectious Diseases
- APAnne Puel
Délégation Paris 5, Scripps Research Institute, Hôpital Necker-Enfants Malades, Inserm, Centre de Référence Déficits Immunitaires Héréditaires, Shanghai Institute of Hematology, Human Genetic of Infectious Diseases
Topics & keywords
- Encephalitis
- Herpes simplex virus
- Virology
- Immunity
- Immunology
- Virus
- Biology
- Pathogenesis