Information on C4BD
Basic details
Name: C4b deficiency | Acronym: C4BD
Alt. names: C4 deficiency
Gene: C4B | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1981
Last updated on: 2023-02-28 16:41:18 by
Description
Clinically characterized by SLE, infections with encapsulated organisms. Partial deficiency is common (either C4A or C4B) and it appears to have a modest effect on host defense. It is biologically characterized by absent CH50 hemolytic activity and defective activation of the classical pathway. Complete C4 deficiency requires biallelic mutations/deletions/conversions of both C4A and C4B.
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 | Asthma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Chronic diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased serum complement C4b |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent otitis media |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Recurrent pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent sinusitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.