Article
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.
Innate immunity - 1 Oct 2017
Ong Lawrence Tc, Nachbur Ueli, Rowczenio Dorota, Ziegler John B, Fischer Eddy, Lin Ming Wei
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.