Information on ICF1
Basic details
Name: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | Acronym: ICF1
Alt. names: immunodeficiency-centromeric instability-facial anomalies syndrome
Gene: DNMT3B | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1999
Last updated on: 2023-05-17 17:25:50 by
Description
Though the disorder may be clinically recognizable in many individuals, immunoglobulin supplementation can be beneficial, as can prophylaxis and early and aggressive treatment of infections . Refs. PMIDs: 8076938; 10555141; 10647011; 11102980; 17893117
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 | Short nose |
20 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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 |
|---|
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