Information on MASP2D
Basic details
Name: MASP2 deficiency | Acronym: MASP2D
Alt. names:
Gene: MASP2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2003
Last updated on: 2023-02-28 16:41:18 by
Description
Surveillance and early treatments for autoimmune phenomena may be beneficial; Infectious sequelae have been reported, but the relation to immunosuppresion regimens is unclear. Refs. PMIDs: 12904520; 19767106; 20338057
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 | Recurrent pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Complement deficiency |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Systemic lupus erythematosus |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | ulcerative colitis |
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.