Information on IMD24
Basic details
Name: Immunodeficiency 24 | Acronym: IMD24
Alt. names:
Gene: CTPS1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals are susceptible to frequent and severe viral and bacterial infections (as well as sequelae such as EBV-related lymphoma), and and antiinfectious prophylaxis and early and aggressive treatment of infections, as well as awareness of potential oncologic sequelae, may be beneficial; HSCT has been described. Refs. PMIDs: 24870241
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 | Recurrent viral infections |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased proportion of memory B cells |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced proportion of mucosal-associated invariant T cells |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased IgG levels |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 5 | Decreased specific pneumococcal antibody level |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Reduced IgG2 levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Reduced ab-response to tetanus vaccine |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 8 | Reduced antigen-specific T cell proliferation |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | (unusual) Respiratory tract infection |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 10 | Varicella zoster virus infection |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 11 | Decreased CD4:CD8 ratio |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 12 | Defective T cell proliferation |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 13 | Lymphoproliferative disorder |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 14 | Persistent viremia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
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.