Information on IMD123
Basic details
Name: Immunodeficiency 123 with HPV-related verrucosis | Acronym: IMD123
Alt. names: CD28 deficiency
Gene: CD28 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2024-08-01 16:41:18 by Andrés Caballero-Oteyza
Description
Only 3 patients from just one consanguineous Iranian family have been reported with this condition to date. These individuals were described as having only susceptibility to skin HPV, more specifically presenting as unusually severe HPV4-driven warts, but were otherwise healthy (PMID:34214472). Immunophenotyping showed normal levels of lymphocytes and immunoglobulins. As the authors stated, "human CD28-dependent T cell responses are largely redundant for protective immunity".
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.