Information on CVID3
Basic details
Name: Immunodeficiency, common variable, 3 | Acronym: CVID3
Alt. names: CD19 deficiency
Gene: CD19 | 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
Indidivuals may demonstrate increased susceptibility to infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 16672701
Management
Description of management option has not been reviewed yet.
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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 decreased circulating total IgG |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Combined immunodeficiency |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased proportion of switched memory B cells |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent otitis media |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Reduced isohemagglutinin level |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Decreased IgA levels |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 7 | Decreased IgM levels |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 8 | Juvenile onset |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 9 | Childhood onset |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 10 | Conjunctivitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 11 | Infantile onset |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 12 | Abnormal B cell count |
0 (0.0%) | 0 (0.0%) | 4 (99.9%) |
| 13 | Abnormal T cell count |
0 (0.0%) | 0 (0.0%) | 4 (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.