Information on APLAID
Basic details
Name: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | Acronym: APLAID
Alt. names:
Gene: PLCG2 | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-04-02 05:19:30 by Xiao P. Peng
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
One group recently found in mouse studies that G-CSF drives APLAID-associated autoinflammation, suggesting a potential therapeutic target (PMID: 36997670)
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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 | Arthralgia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Bronchiolitis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Cellulitis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased IgA levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased IgM levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Decreased proportion of switched memory B cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Enterocolitis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Erythema |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Infantile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Interstitial pneumonitis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Sinopulmonary infections |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Cataract |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Corneal erosion |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | ulcerative colitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
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.