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Open Access 01-12-2016 | Letter to the Editor

Proteus syndrome: evaluation of the immunological profile

Authors: Vassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, Manuela Baronio, Daniele Moratto, M. R. Pizzino, Kshitij Mankad, Silvana Briuglia, Carmelo Salpietro, Alessandro Plebani

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

Abstract

Proteus 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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Title: Proteus syndrome: evaluation of the immunological profile
Authors: Vassilios Lougaris
Vincenzo Salpietro
Maricia Cutrupi
Manuela Baronio
Daniele Moratto
M. R. Pizzino
Kshitij Mankad
Silvana Briuglia
Carmelo Salpietro
Alessandro Plebani
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-015-0381-z

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Proteus syndrome: evaluation of the immunological profile

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