Information on SCN1
Basic details
Name: Severe congenital neutropenia 1 | Acronym: SCN1
Alt. names: Elastase deficiency
Gene: ELANE | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2000
Last updated on: 2023-05-17 17:13:47 by
Description
Antiinfectious prophylaxis (including GCSF and related therapies) and early and aggressive treatment of infections may be beneficial; Surveillance and early treatment for malignancy may be beneficial; HSCT has been described for severe congenital neutropenia. Refs. PMIDs: 13575153; 6050865; 4319697; 2471075; 2469956; 1282277; 8490166; 7529539; 8541539; 8989458; 8624368; 9116280; 9386665; 10581030; 11001877; 10887102; 17063141; 18028488; 17133096; 18611981; 19036076; 21072829; 22148006; 22080845; 22510773; 22624626; 22758217; 23454784; 23463630
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 |
|---|
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.