Information on SAVI1
Basic details
Name: STING-associated vasculopathy, infantile-onsent, 1 | Acronym: SAVI1
Alt. names:
Gene: STING1 | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2014
Last updated on: 2023-02-28 16:41:18 by
Description
Autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014).[OMIM]
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 | Failure to thrive |
10 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Elevated C-reactive protein |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | elevated ESR |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Antinuclear antibodies |
6 (60.0%) | 0 (0.0%) | 4 (40.0%) |
| 5 | Cutis marmorata |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Livedo reticularis |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Nail dystrophy |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Paratracheal lymphadenopathy |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Pulmonary fibrosis |
6 (60.0%) | 0 (0.0%) | 4 (40.0%) |
| 10 | Pustular rash |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Recurrent infections |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Telangiectasia |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Antiphospholipid antibody positive |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 14 | Increased IgA levels |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Increased IgG level |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Leukopenia |
5 (83.3%) | 0 (0.0%) | 1 (16.7%) |
| 17 | Lymphopenia |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Nasal septum perforation |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 19 | Neonatal onset |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 20 | Raynaud phenomenon |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Rheumatoid factor positive |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | Thrombocytosis |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 23 | Follicular hyperplasia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Malar rash |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 25 | Nailfold capillary tortuosity |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 26 | Periungual erythema |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 27 | Recurrent fevers |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 28 | Sparse hair |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 29 | Anemia |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 30 | Arthralgia |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 31 | Infantile onset |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 32 | Joint stiffness |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 33 | Myositis |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 34 | Skeletal muscle atrophy |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 35 | Tachypnea |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 36 | cytoplasmic antineutrophil antibodies |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
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.