Lin Wang, Carlos D. Rosé, Kevin P. Foley, Jordi Anton, Brigitte Bader-Meunier, Philippe Brissaud, Gaelle Chédeville, Rolando Cimaz, Jorge Fernández-Martin, Catherin Guly, Eric Hachulla, Miroslav Harjacek, Friederike Mackensen, Rosa Merino, Consuelo Modesto, Antonio Naranjo Hernández, Christine Pajot, Athimalaipet V. Ramanan, Akaluck Thatayatikom, Caroline Thomée, Sebastiaan Vastert, Bart J. Votta, John Bertin, and Carin H. Wouters.

Rheumatology 2018
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Blau syndrome is an inherited auto-inflammatory disease that is characterized by arthritis, dermatitis, and uveitis. Patients also experience the presence of non-caseating granulomas, suggesting that the disease pathogenesis involves activated macrophages. The current management of Blau disease, using familiar drug classes such as corticosteroids, DMARDS and biologics, is not adequate. In order to assist in future drug development studies, biomarkers for Blau disease activity will be extremely useful. Phagocyte specific S100 proteins, such as S100A12, S100A8, and S100A9, have been proposed as biomarkers for Blau syndrome. These proteins are secreted by neutrophils and macrophages upon activation. This prospective cohort study will aim to correlate disease activity with inflammatory and S100 proteins.

Plasma collected from 5 Blau syndrome patients and 8 normal healthy volunteers were analyzed using Human DiscoveryMAP, which consists of 261 circulating proteins. Six proteins were found to be more abundant in Blau syndrome patients compared to healthy controls, with IL-8, IL-16, and S100A12 showing significant differences.

These results were confirmed using independent blood samples from the same 5 Blau syndrome patients analyzed using SinglePlex kits for IL-8 and IL-18 and ELISA for S100A12. Further analysis of S100A12 and S100A8/9 also demonstrate a good correlation with articular disease and active arthritis in Blau patients. The authors concluded that S100 proteins can be used to monitor patient response to therapies as a tool to determine efficacy in clinical trials of novel treatment strategies.