Journal
INNATE IMMUNITY
Volume 23, Issue 7, Pages 578-583Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/1753425917727063
Keywords
Autoinflammation; Blau syndrome; early onset sarcoidosis; inflammasome; NOD2
Categories
Funding
- National Health and Medical Research Council [1046986]
- Australian Research Council [FT 130100166]
- Australian Government IRIISS [9000220]
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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.
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