Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5

A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy (IIAE5) is caused by heterozygous mutation in the TRAF3 gene (601896) on chromosome 14q32. One such patient has been reported.

For a phenotypic description of herpes simplex encephalitis (HSE) and a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551.

Clinical Features

Perez de Diego et al. (2010) described a 4-year-old French girl from nonconsanguineous parents who presented with persistent high fever before the onset of other symptoms, including diarrhea and convulsions, followed by epilepsy and aphasia. Her cerebrospinal fluid contained herpes simplex virus (HSV)-1, and she responded well to 3 weeks of intravenous acyclovir treatment. At age 18 years, she was healthy and had normal responses to other infectious diseases, including other HSV family members.

Inheritance

In the patient reported by Perez de Diego et al. (2010), susceptibility to HSE was inherited in an autosomal dominant manner.

Molecular Genetics

In a patient with susceptibility to HSE, Perez de Diego et al. (2010) identified a heterozygous C-to-T substitution at position 352 in exon 4 of the TRAF3 gene, resulting in a nonconservative missense change, arg118 to trp (R118W; 601896.0001). The parents and brothers of the patient were homozygous for wildtype TRAF3.