• Vassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, Manuela Baronio, Daniele Moratto, M R Pizzino, Kshitij Mankad, Silvana Briuglia, Carmelo Salpietro, and Alessandro Plebani.
• Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Piazzale Spedali Civili 1, Brescia, 25123, Italy. vlougarisbs@yahoo.com.
• Orphanet J Rare Dis. 2016 Jan 13; 11: 3.

AbstractProteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse.We report on the novel immunologic findings of a 15 years old girl affected with PS. Detailed T and B cell evaluation revealed maturational alterations for both subsets and functional hyperactivation for the latter. Such findings have not been reported previously in PS and may be the spy of more complex immune abnormalities in this syndrome.

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