Information on ICF3
Basic details
Name: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | Acronym: ICF3
Alt. names:
Gene: CDCA7 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described with recurrent childhood infections, and awareness may allow prompt and aggressive treatment of infections. Refs. PMIDs: 15952214; 1999836; 26216346
Management
Description of management option has not been reviewed yet.
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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Recurrent infections |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Recurrent otitis media |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 3 | Intellectual disability |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 4 | Motor delay |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 5 | Abnormal B cell morphology |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.