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Related Experiment Video

Updated: May 11, 2026

Differentiation of the SH-SY5Y Human Neuroblastoma Cell Line

Differentiation of the SH-SY5Y Human Neuroblastoma Cell Line

Published on: February 17, 2016

Mendelian predisposition to herpes simplex encephalitis.

Shen-Ying Zhang¹, Laurent Abel, Jean-Laurent Casanova

¹Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France; Université Paris René Descartes, Necker Medical School, Paris, France.

Handbook of Clinical Neurology

|April 30, 2013

Summary

This summary is machine-generated.

Inborn errors in interferon immunity predispose individuals to herpes simplex encephalitis (HSE). Genetic defects in TLR3-IFN pathways are key factors in developing this severe brain infection.

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Area of Science:

Immunology
Virology
Genetics

Background:

Herpes simplex encephalitis (HSE) is the most common sporadic viral encephalitis in Western countries.
The underlying causes for HSE, affecting a small fraction of HSV-1 infected individuals, remain largely unknown.
Recent findings indicate that genetic defects in Toll-like receptor 3 (TLR3)-interferon (IFN) pathways may increase susceptibility to HSE in some children.

Purpose of the Study:

To investigate the role of Mendelian defects in interferon-mediated immunity in the pathogenesis of herpes simplex encephalitis.
To identify specific genetic causes for HSE, particularly in children.
To elucidate the mechanisms by which genetic variations in IFN pathways confer susceptibility to HSE.

Main Methods:

Case studies of children with HSE and/or mycobacterial disease.
Genetic analysis to identify mutations in genes involved in TLR3-IFN signaling pathways.
Functional studies of interferon production and response in affected individuals.

Main Results:

Autosomal recessive STAT-1 deficiency and X-linked NEMO deficiency were identified in children with both mycobacterial disease and HSE.
Autosomal recessive UNC-93B deficiency and autosomal dominant TLR3 deficiency were found in children with isolated HSE.
These genetic defects highlight a novel group of single-gene inborn errors affecting IFN-mediated immunity.

Conclusions:

Single-gene defects in IFN-mediated immunity can predispose individuals to HSE.
The TLR3-UNC-93B pathway is crucial for producing IFN-α/β and IFN-λ, essential for immunity against HSV-1 in the central nervous system.
These findings provide a genetic basis for understanding HSE pathogenesis and may inform future diagnostic and therapeutic strategies.