Information on CFDD
Basic details
Name: Complement factor D deficiency | Acronym: CFDD
Alt. names:
Gene: CFD | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may manifest with increased susceptibility to bacterial infections (especially Neisseria), and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 11457876; 16527897
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 | Partial functional complement factor D deficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | repeated bacterial infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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