Information on CID38
Basic details
Name: Combined immunodeficiency 38 | Acronym: CID38
Alt. names: COPG1 deficiency | Immunodeficiency 128 | IMD128
Gene: COPG1 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2024-10-20 14:25:59 by Andrés Caballero-Oteyza
Description
Only one consanguineous Omani family with 5 affected siblings has been reported with this condition (PMID:33529166). Patients presented with recurrent pneumonia, early-onset bacterial and viral respiratory infections, chronic EBV, CMV viremia, failure to thrive, and bronchiectasis. Immunophenotyping showed normal but poor antibody responses to vaccines, normal B cell levels and reduced T cell counts (CD4 lymphopenia and decreased to normal CD8 cells), and reduced NK cells.
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 |
|---|
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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.