Information on FCAS3
Basic details
Name: Familial cold autoinflammatory syndrome 3 | Acronym: FCAS3
Alt. names: PLAID
Gene: PLCG2 | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-09-18 17:02:30 by Andrés Caballero-Oteyza
Description
Individuals with Familial cold autoinflammatory syndrome 3 (PLAID) may be susceptible to recurrent and severe infections, and prophylaxis (eg, with IVIG) as well as early and aggressive treatment of infections may be beneficial; Individuals with APLAID may present with multi-system inflammation (eg, affecting the skin and GI system), and may demonstrate immune deficiency (eg, with frequent upper respiratory infections), and medical treatment (eg, with IL1 antagonists and high-dose corticosteroids) has been reported as beneficial. Refs. PMIDs: 19910034; 22236196; 23000145
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 | Cold-induced urticaria |
27 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Erythema |
20 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Pruritus |
20 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Allergy |
15 (55.6%) | 0 (0.0%) | 12 (44.4%) |
| 5 | Antinuclear antibodies |
13 (61.9%) | 0 (0.0%) | 8 (38.1%) |
| 6 | Presyncope |
12 (60.0%) | 0 (0.0%) | 8 (40.0%) |
| 7 | Sinopulmonary infections |
12 (44.4%) | 0 (0.0%) | 15 (55.6%) |
| 8 | Allergic rhinitis |
9 (42.9%) | 0 (0.0%) | 12 (57.1%) |
| 9 | Asthma |
9 (42.9%) | 0 (0.0%) | 12 (57.1%) |
| 10 | Angioedema |
6 (30.0%) | 0 (0.0%) | 14 (70.0%) |
| 11 | Recurrent otitis media |
6 (28.6%) | 0 (0.0%) | 15 (71.4%) |
| 12 | Vitiligo |
4 (19.1%) | 0 (0.0%) | 17 (81.0%) |
| 13 | Autoimmune thyroiditis |
2 (9.5%) | 0 (0.0%) | 19 (90.5%) |
| 14 | Onychomycosis |
2 (9.5%) | 0 (0.0%) | 19 (90.5%) |
| 15 | Dermatographic urticaria |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
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.