Information on ICF4
Basic details
Name: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | Acronym: ICF4
Alt. names:
Gene: HELLS | 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: 26216346
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 |
|---|---|---|---|---|
| 1 | Motor delay |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 2 | Intellectual disability |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 3 | Recurrent infections |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 4 | Abnormal B cell morphology |
0 (0.0%) | 0 (0.0%) | 4 (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.