Information on CFID
Basic details
Name: Complement factor I deficiency | Acronym: CFID
Alt. names: Factor I deficiency
Gene: CFI | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 1996
Last updated on: 2023-02-28 16:41:18 by
Description
In Hemolytic-uremic syndrome, atypical, the choice of specific treatment modalities (eg, danazol, plasma exchange, plasma therapy, eculizumab), as well as decision to perform renal transplant, may be dictated by genetic diagnosis (though renal transplant has been described as not uniformly successful), and certain agents/precipitating factors should be avoided (eg, certain medications); In Complement factor I deficiency, antiinfectious prophylaxis and early and aggressive treatment of infections can be beneficial; Medical considerations relevant for Hemolytic uremic syndrome (caused by mutations in the same gene) may also be important for individuals diagnosed with Complement factor I deficiency. Refs. PMIDs: 4188976; 4097977; 4507613; 849647; 7922290; 8613545; 15173250; 16412054; 16175037; 16621965; 16386793; 22903728
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 | Decreased serum complement factor I |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Decreased serum complement C3 |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 3 | Decreased serum complement factor B |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | Neisseria meningitidis infection |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 5 | Childhood onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Infantile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Recurrent meningitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 8 | Recurrent otitis media |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Recurrent sinusitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 10 | Infective Arthritis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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