Molecular mechanism on granuloma formation based on the analysis with cellular and molecular biology

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Blau syndrome and early-onset sarcoidosis (EOS) is the granulomatosis, based on the NOD2 mutation, which is spontaneously activated without external ligand. To unveil the molecular mechanism how NOD2 activation induce granuloma formation, we collected CD14 positive peripheral monocytes from the patients and analyzed the gene expression profiles. However, probably due to the quite low expression levels of NOD2 gene in the peripheral monocytes from the patients, we could not identify the difference between the patients with NOD2 mutation and normal controls to explain the granuloma formation in Blau syndrome/EOS. We will still continue the analysis for evaluating the granuloma formation, using the transient expression model with disease-associated NOD2 mutants, that was established through this project.