Written by cantariniluca, published over 4 years ago.

Since 2007 in our laboratory (Rheumatology Unit, University of Siena, Italy) we are focused in the clinical and genetic approach to the diagnosis of Autoinflammatory Disordes, such as familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency syndrome (MKD), also known as hyper-gammaglobulinemia-D syndrome (HIDS), the whole family of cryopyrin associated periodic syndromes (CAPS), which encompass familial cold urticaria syndrome (FCAS), Muckle-Wells syndrome and CINCA (Chronic Infantile Neurological Cutaneous and Articular) syndrome, NLRP12-associated autoinflammatory disorder (NLRP12AD), and Blau syndrome (BS).

During the period 2007-2013 more than 650 adult and pediatric patients were followed for histories of periodically-recurring fever attacks. Patients were clinically and genetically evaluated. Of them, about 20% were genetically positive.
We have also actively dedicated ourselves to the clinical management of these patients. Moreover, in collaboration with many National and International Referral Centers, we have recently started studying microRNA alterations in Autoinflammatory Disorders; looking a bit further into the future, microRNAs are potential biomarkers which could be exploited in Autoinflammatory Diseases both to monitor disease activity and also response to drugs. Over the past four years, from our studies, at least 40 publications (genetic, clinical and therapeutic aspects) were done, and are available in pubmed.

Luca Cantarini, MD, PhD
Research Center of Systemic Autoimmune and Autoinflammatory Diseases
Rheumatology Unit, Policlinico Le Scotte.
University of Siena
Viale Bracci 1, 53100 Siena, Italy.
Phone:; Office: + 39 (0) 577 586776; Fax: +39 (0) 577 40450.

Written by cantariniluca, published over 4 years ago.


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