Information on CVID19
Basic details
Name: Immunodeficiency, common variable, 19 | Acronym: CVID19
Alt. names: Immunodeficiency 61 | IMD61 | SH3KBP1 deficiency | CIN85 deficiency
Gene: SH3KBP1 | MOI: X-linked recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 16:41:18 by
Description
An X-linked form of hypogammaglobulinemia not caused by mutations in BTK but in the gene SH3KBP1. It is characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by Keller et al., 2018).
Management
The condition has been described as including early-onset, severe infections, and awareness may allow preventative 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 | Attention deficit hyperactivity disorder |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Reduced IgG2 levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced IgG4 levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased IgM levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Infantile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Obesity |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | repeated bacterial infections |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent otitis media |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Recurrent respiratory infections |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Recurrent sinusitis |
2 (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.