Identification of Blau Syndrome disease signatures
نویسندگان
چکیده
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).
منابع مشابه
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues
Background and Aim of the Work. Blau syndrome is an inherited granulomatous inflammatory disorder with clinical findings of uveitis, arthritis, and dermatitis. Although rare, Blau syndrome shares features with the more common diseases sarcoidosis and Crohn's disease. The clinical findings of Blau syndrome are indistinguishable from juvenile sarcoidosis; the mutations of Blau syndrome are on the...
متن کاملA new mutation in blau syndrome: case report
Introduction Blau syndrome is a rare autoinflamattory granulomatous disease and inherited as autosomal dominant.The classical triad of Blau syndrome is granulomatous dermatitis, symmetric arthritis and recurrent uveitis. However, all of these findings may not be together in the patients. In the majority of patients, the disease is characterized by early onset that usually before 3-4 years of ag...
متن کاملA New Mutation in Blau Syndrome
Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2-13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who...
متن کاملBlau Syndrome, the prototypic auto-inflammatory granulomatous disease
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms. From an ongoing prospective multicenter study, we provid...
متن کاملBlau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients
Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2) mutations. Three main mutations in this gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features. However, little is known on the involvement of this gene in idiopathic uveitis. We thus sought to determi...
متن کامل