Information on CID14A
Basic details
Name: Combined immunodeficiency 14A | Acronym: CID14A
Alt. names: Immunodeficiency 120 | IMD120 | Polymerase delta deficiency | POLD1 deficiency
Gene: POLD1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2024-06-04 09:55:51 by Andrés Caballero-Oteyza
Description
Condition first reported in 2019 and 2020 in 4 patients from 2 kindreds in 2 independent studies. Patients were clinically characterized by recurrent respiratory tract infections, skin infections, warts and molluscum, low IgG levels, low B cells with normal maturation and low CD4 T cells. They also presented with non-immunological features, such as short stature, intellectual disability, hearing loss, or speech delay (PMID: 31449058, 31629014).
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.