Information on CVID5
Basic details
Name: Immunodeficiency, common variable, 5 | Acronym: CVID5
Alt. names: CD20 deficiency | MS4A1 deficiency
Gene: MS4A1 | 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
Individuals may be susceptible to recurrent infections (eg, respiratory infections have been reported), and antiinfectious prophylaxis (including with IVIG therapy) and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 20038800
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 | Antinuclear antibodies |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Childhood onset |
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 | Combined immunodeficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Abnormal B cell count |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 7 | 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.