Information on AILJK
Basic details
Name: Autoimmune interstitial lung, joint, and kidney disease | Acronym: AILJK
Alt. names:
Gene: COPA | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may manifest with multisystemic autoimmune conditions, and medical management with immunosuppressive therapy has been described such that early awareness may allow prompt treatment. Refs. PMIDs: 25894502
Management
Description of management option has not been reviewed yet.
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 | Arthritis |
20 (95.2%) | 0 (0.0%) | 1 (4.8%) |
| 2 | Childhood onset |
16 (76.2%) | 0 (0.0%) | 5 (23.8%) |
| 3 | Interstitial lung disease |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Restrictive ventilatory defect |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Antinuclear antibodies |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 6 | Pulmonary hemorrhage |
7 (77.8%) | 0 (0.0%) | 2 (22.2%) |
| 7 | Arthralgia |
5 (23.8%) | 0 (0.0%) | 16 (76.2%) |
| 8 | Cough |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 9 | Crescentic glomerulonephritis |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | Tachypnea |
2 (22.2%) | 0 (0.0%) | 7 (77.8%) |
| 11 | Dyspnea |
1 (11.1%) | 0 (0.0%) | 8 (88.9%) |
| 12 | Hemosiderin-laden macrophages in bronchoalveolar fluid |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Mesangial hypercellularity |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
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.