Information on IMD9
Basic details
Name: Immunodeficiency 9 | Acronym: IMD9
Alt. names:
Gene: ORAI1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2006
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis; early and aggressive treatment of infections. Refs. PMIDs: 8814256; 15452313; 16582901; 21873530; 24591628; 25227914
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 | Congenital onset |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Muscular hypotonia |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Recurrent infections |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 4 | Death in infancy |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 5 | Failure to thrive |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 6 | Chronic diarrhea |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 7 | Thymus hypoplasia |
3 (50.0%) | 0 (0.0%) | 3 (50.0%) |
| 8 | Amelogenesis imperfecta |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 9 | Ectodermal dysplasia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Global developmental delay |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 11 | BCGitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 12 | Decreased IgM levels |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 13 | Abnormal NK cell count |
0 (0.0%) | 0 (0.0%) | 4 (99.9%) |
| 14 | Decreased IgA levels |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
| 15 | Decreased IgG levels |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
| 16 | Lymphopenia |
0 (0.0%) | 0 (0.0%) | 6 (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.