Information on IMD83
Basic details
Name: Herpes simplex encephalitis, susceptibility to, 2 | Acronym: IMD83
Alt. names: Immunodeficiency 83, susceptibility to viral infections
Gene: TLR3 | MOI: Autosomal inheritance | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). The age at onset varies widely from infancy to adults, and there is incomplete penetrance. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system (CNS) or lung epithelial cells. [OMIM]
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Confusion |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Herpes simplex encephalitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Juvenile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Meningitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Seizures |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.