Information on IMD95
Basic details
Name: Immunodeficiency 95 | Acronym: IMD95
Alt. names: IFIH1-LOF | MDA5 deficiency | MDA5D
Gene: IFIH1 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by predisposition to infections from rhinovirus and other RNA viruses. It affects several cell types in which viral recognition and IFN induction is impaired.
Management
Description of management option has not been reviewed yet.
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 | Reduced IgG3 levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Ground-glass opacification |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Increased circulating IgG3 level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Lymphopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Recurrent fevers |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent viral pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Recurrent viral upper respiratory tract infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Respiratory distress |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Respiratory failure |
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.