Information on CVID7
Basic details
Name: Immunodeficiency, common variable, 7 | Acronym: CVID7
Alt. names: CD21 deficiency
Gene: CR2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 22035880
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 | Chronic (near) absent circulating IgG4 |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Chronic diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Chronic partially decreased circulating IgG1 |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased IgA levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased circulating total IgG |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Decreased specific pneumococcal antibody level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Myalgia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Pharyngalgia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Recurrent urinary tract infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Reduced isohemagglutinin level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Splenomegaly |
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.