Identification of Blau Syndrome disease signatures

Results By transcriptional profiling, a 21-gene signature was identified as differentially expressed between Blau and NHV samples. Consistent with constitutive activation of NOD2 signaling in Blau, 14 out of 21 of these genes were similarly regulated by NOD2 ligand stimulation in a NHV whole blood assay (P<0.0001). Plasma protein profiling identified a 7-protein signature specifically upregulated in Blau relative to NHV samples. Cross validation by PLS-DA supervised classification showed 90-100% accuracy in assigning patient disease status. Of particular interest, the inflammatory protein S100A12 (EN-RAGE) was found to be increased by 4.6 fold in Blau plasma (FDR P=0.005).