Information on CVID6
Basic details
Name: Immunodeficiency, common variable, 6 | Acronym: CVID6
Alt. names: CD81 deficiency
Gene: CD81 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2010
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: 20237408
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 | Arthralgia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Autoimmune thrombocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Chronic decreased circulating total IgG |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Absent specific antibody response to tetanus vaccine |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased specific pneumococcal antibody level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Nephromegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Glomerulonephritis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Hydronephrosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Macroscopic hematuria |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Mesangial Immune complex deposition |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Nephrotic range proteinuria |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Purpura |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | repeated bacterial infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Stage 5 chronic kidney disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Abnormal B cell count |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 18 | Abnormal T cell count |
0 (0.0%) | 0 (0.0%) | 1 (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.