Information on IMD96
Basic details
Name: Immunodeficiency 96 | Acronym: IMD96
Alt. names: Ligase I deficiency
Gene: LIG1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1992
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair (summary by Maffucci et al., 2018). [OMIM]
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 | Decreased IgA levels |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgG levels |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased IgM levels |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Increased mean corpuscular volume |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent infections |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Increased proportion of gamma-delta T cells |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Childhood onset |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 8 | Infantile onset |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 9 | Multicystic kidney dysplasia |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 10 | Conjunctival telangiectasia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Defective T cell proliferation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Eczema |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 13 | Growth delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Motor delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Recurrent lower respiratory tract infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Recurrent otitis media |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Intellectual disability |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
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.