Information on IIAE11
Basic details
Name: Susceptibility to acute infection-induced encephalopathy type 11 | Acronym: IIAE11
Alt. names: DBR1 deficiency | susceptibility to acute infection (viral)-induced encephalitis-11
Gene: DBR1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by impaired production of anti-viral IFNs, which leads to susceptibility to viral encephalitis with neurotropic viruses, such as herpes simplex virus-1 (HSV-1), influenza B virus (IBV), or norovirus (NV), beginning in the first decade of life. The brainstem is specifically affected, suggesting a defect in tissue-specific and cell-intrinsic immunity. The disease is often fatal (summary by Zhang et al., 2018). [OMIM]
Management
Description of management option has not been reviewed yet.
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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 | Viral encephalitis |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Juvenile onset |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 3 | Childhood onset |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 4 | Infantile onset |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 5 | Intrauterine growth retardation |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 6 | Mild global developmental delay |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
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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.