Information on BLAUS
Basic details
Name: Blau syndrome | Acronym: BLAUS
Alt. names:
Gene: NOD2 | MOI: Autosomal dominant | Mechanism of action: Gain of Function
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by
Description
Bi-allelic mutations result in a ~40-fold higher relative risk of Crohn disease; In Blau syndrome, individuals have been described as responding to TNF-alpha or IL1B inhibitory medications. Variants may also be related to susceptibility to Yao syndrome. Refs. PMIDs: 4056967; 3993660; 8394645; 8882056; 9508240; 11385576; 11528384; 12879366 ; 15086578; 15459013; 17698784; 17804789 ; 21788900; 21914217; 21951874; 22147245; 22509093; 22821420; 22859352; 23102769; 23124805; 26070941
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 | Arthritis |
61 (92.4%) | 0 (0.0%) | 5 (7.6%) |
| 2 | Intermittent generalized erythematous papular rash |
42 (95.5%) | 0 (0.0%) | 2 (4.6%) |
| 3 | Uveitis |
39 (72.2%) | 0 (0.0%) | 15 (27.8%) |
| 4 | Camptodactyly of finger |
17 (85.0%) | 0 (0.0%) | 3 (15.0%) |
| 5 | Hypertension |
4 (8.9%) | 0 (0.0%) | 41 (91.1%) |
| 6 | erythema nodosum |
3 (6.7%) | 0 (0.0%) | 42 (93.3%) |
| 7 | Iritis |
3 (27.3%) | 0 (0.0%) | 8 (72.7%) |
| 8 | pericarditis |
2 (4.4%) | 0 (0.0%) | 43 (95.6%) |
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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.