A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function
- Author(s)
- Ong, LT; Nachbur, U; Rowczenio, D; Ziegler, JB; Fischer, E; Lin, MW;
- Journal Title
- Innate Immunity
- Publication Type
- Journal Article in press
- Abstract
- Mutations in the nucleotide binding domain of the PRR, NOD2, are associated with the autoinflammatory diseases Blau syndrome and early-onset sarcoidosis. Current theories suggest that constitutive activation of the NOD2 pathway may be responsible for pathogenesis of these diseases. Here, we report the phenotype of a kindred with Blau syndrome caused by a novel NOD2 mutation (p.E383D). Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome.
- Publisher
- SAGE
- Research Division(s)
- Cell Signalling And Cell Death
- PubMed ID
- 28836875
- Publisher's Version
- https://doi.org/10.1177/1753425917727063
- NHMRC Grants
- NHMRC/1046986,
- ARC Grants
- ARC/FT130100166,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2017-09-06 11:18:09
Last Modified: 2017-11-16 11:41:27