Information on SCN7
Basic details
Name: Severe congenital neutropenia 7 | Acronym: SCN7
Alt. names:
Gene: CSF3R | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described with early-onset severe and recurrent infections, and prophylactic measures (eg, GM-CSF, but not G-CSF has been reported as beneficial) as well as early and aggressive treatment of infections may be beneficial. One individual with Neutrophilia has been described as developing a myelodysplastic syndrome with refractory anemia. Refs. PMIDs: 4825608; 19620628; 24753537; 26324699
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 | Neutropenia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Recurrent infections |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neonatal onset |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 4 | Childhood onset |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 5 | Infantile onset |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 6 | Bone marrow maturation arrest |
0 (0.0%) | 0 (0.0%) | 3 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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