Clinical manifestations & biomarkers in Behçet's disease : identification of signature markers for diagnosis, treatment and improvement in patients outcome

Behçet's disease (BD) is a chronic relapsing vasculitis that affects vessels of all types and sizes with a broad spectrum of phenotypic heterogeneity and complex immunopathogenesis. Accurate and timely diagnosis of BD remains a challenge to  many  physicians  as  no laboratory test can be used to make the diagnosis. Phenotypic heterogeneity and genetic variance among BD patients compounded with limited epidemiological data especially from non-endemic countries such as North Europe pose substantial challenge for biomarker discovery in BD. In this era of precision medicine, there is pressing need for identification of signature biomarker(s) and its incorporation into clinical practice. Novel biomarker(s) discovery will; facilitate prompt and accurate diagnosis, enable prognostication especially in high-risk patients, enhance selection for best treatment strategies, assist treatment monitoring and disease activity evaluation, all combined, providing a solid  foundation for optimal disease management and improve patients overall outcome. This thesis highlights recent advances in our scientific understanding of BD and addresses the residual gaps in our knowledge. It sheds new light on novel phenotypic characteristic, potential novel molecular and signature genetic markers that modulate inflammation, and anti-tumor necrosis factor (anti-TNF)immunomodulatory therapeutic strategies in an Irish BD cohort.