Information on C9D
Name: Complement component 9 deficiency | Acronym: C9D
Alt. names:
Gene: C9 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1997
Last updated on: 2023-02-28 by
Description
Antiinfectious prophylaxis (including related to specific immunization) and early and aggressive treatment of infections may be beneficial. In some individuals, there has been no evidence of predicted sequelae (eg, Neisseria infections). Refs. PMIDs: 7430628; 2744767; 8747118; 9703418; 10083734; 12596049; 15943177; 21270745; 22123893; 22381107
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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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).