Information on CVID11
Basic details
Name: Immunodeficiency, common variable, 11 | Acronym: CVID11
Alt. names: IL-21 deficiency
Gene: IL21 | 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
A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins - the numbers of circulating B-cells is usually in the normal range, but can be low. Individuals have been described as manifesting also with severe inflammatory bowel disease.
Management
Recognition of recurrent/severe respiratory infections and IBD may allow prophylactic measures and early and aggressive treatment of infections.
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 | Aphthous oral ulcer |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Clubbing of fingers |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Crohn's disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased IgG levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased proportion of switched memory B cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Failure to thrive |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Fatigue |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Growth delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Increased IgE levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Inflammation of the large intestine |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Mucoid diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | 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.