Unusual association of NOD 2 mutation
Introduction: Blau syndrome, a rare autosomal dominant granulomatous autoinflammatory disease resulting from mutations in NOD2/CARD15 gene, impacts 200 individuals globally. This syndrome marked by early onset is associated with a triad of noncaseating granulomatous uveitis, arthritis and granulomatous [for full text, please go to the a.m. URL]
Institutions
- Universitätsklinikum Tübingen (DE)
- IVF Centers Prof. Zech (AT)
- University of Tübingen (DE)
Publication Details
- Journal
- German Medical Science (German Research Foundation)
- Published
- 2024-09-18
- DOI
- https://doi.org/10.3205/24dgrh112
- Primary Topic
- Sarcoidosis and Beryllium Toxicity Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00