Information on C1QAD
Basic details
Name: C1q deficiency type A | Acronym: C1QAD
Alt. names: C1Q deficiency
Gene: C1QA | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1996
Last updated on: 2023-02-28 16:41:18 by
Description
While the majority of sequelae may involve autoimmune manifestations (for which treatment with FFP may be beneficial), some individuals have been described with frequent and/or severe infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Individuals are also prone to autoimmune disease (eg, glomerulonephritis, SLE). Refs. PMIDs: 6445507; 6319055; 7594474; 8840296; 9225968; 10776791; 20560256; 22576477
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 |
|---|
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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