Information on CID14A
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 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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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased proportion of CD4 Th cells |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased IgA levels |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 3 | Decreased IgG levels |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 4 | Decreased IgM levels |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 5 | Herpes labialis, recurrent |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 6 | Recurrent upper respiratory tract infections |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 7 | Childhood onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 8 | Absent specific antibody response to tetanus vaccine |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 9 | Hearing impairment |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Intellectual disability, borderline |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 11 | Reduced number of B cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Bronchiectasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Chronic bronchitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Reduced proportion of naive CD4 T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Delayed speech and language development |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Infantile onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Microcephaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Recurrent lower respiratory tract infections |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 19 | Recurrent shingles |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 20 | Reduced NK cell number |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Sensorineural hearing impairment |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 22 | short stature |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Warts |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Age of onset
distribution
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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.
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).