Information on CVID18
Basic details
Name: Immunodeficiency, common variable, 18 | Acronym: CVID18
Alt. names: Immunodeficiency 62 | IMD62 | ARHGEF1 deficiency
Gene: ARHGEF1 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-02-28 16:41:18 by
Description
It is an autosomal recessive primary immunologic disorder clinically characterized by onset of recurrent upper and lower respiratory infections late in the first decade of life. Patients may also have increased viral susceptibility to varicella zoster virus (VZV) or herpes simplex virus (HSV). Laboratory studies show impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies. There is also evidence of secondary T-cell dysfunction. The disorder may result from disturbed actin cytoskeleton dynamics causing impaired lymphocyte migration (summary by Bouafia et al., 2019).
Management
The condition can involve early-onset, recurrent, and severe infections and diagnosis may allow preventative measures and early and prompt treatment of infections (for example, with IVIG); Cancer has been described, and awareness of an increased risk may allow early diagnosis and management.
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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 | Reduced number of B cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bronchiectasis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Absent specific antibody response to tetanus vaccine |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased IgG levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased proportion of memory B cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Increased proportion of transitional B cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Juvenile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Herpes Simplex Virus Infection |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Recurrent lower respiratory tract infections |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Recurrent upper respiratory tract infection |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Severe recurrent varicella |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Autoimmune thrombocytopenia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Decreased IgM levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Reduced isohemagglutinin level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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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.