Information on C2D
Basic details
Name: Complement component 2 deficiency | Acronym: C2D
Alt. names:
Gene: C2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1991
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial for infectious manifestations; Patients may also develop autoimmune manifestations, and treatment with immune modulators has been described. Refs. PMIDs: 14446782; 4161820; 1124106; 2582254; 1542325; 1361318; 1577763; 8621452; 15643297; 16026838; 20417301; 20890976; 22842196
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 |
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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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