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

OMIM: 217000

Orphanet: -

MONDO: -

DOID: -

ClinGen:

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

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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