Information on AISBL
Basic details
Name: Familial autoinflammatory Behcet-like syndrome | Acronym: AISBL
Alt. names: Autoinflammatory syndrome, familial, Behcet-like
Gene: TNFAIP3 | MOI: Autosomal dominant | Mechanism of action: Haploinsufficiency
No. of cases in DB: 1 | First reported in: 2016
Last updated on: 2023-03-22 09:44:22 by Andrés Caballero-Oteyza
Description
A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines, variably manifesting with recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis, and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).[ORPHANET]
Management
Medical treatment with TNF inhibitors or colchicine has been described as beneficial (PMIDs: 26642243)
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
102223 |
F | 214918 | 63 | Germany | German | PMID:35486341 [P191] |
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 | Drug allergy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Sinusitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hypothyroidism |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Lymphadenopathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Rosacea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Splenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Abnormal lymphoproliferation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Bronchiectasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Endocrine system abnormality |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Lung disease |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Atopy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Allergy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Pulmonary Emphysema |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Increased IgG level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.