Proteus syndrome: evaluation of the immunological profileReport as inadecuate

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Orphanet Journal of Rare Diseases

, 11:3

First Online: 13 January 2016Received: 09 November 2015Accepted: 28 December 2015DOI: 10.1186-s13023-015-0381-z

Cite this article as: Lougaris, V., Salpietro, V., Cutrupi, M. et al. Orphanet J Rare Dis 2016 11: 3. doi:10.1186-s13023-015-0381-z


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.

KeywordsProteus syndrome Overgrowth B cells T cells AbbreviationsMRImagnetic resonance imaging

NKnatural killer


PSproteus syndrome

RBErecent bone marrow emigrants

RTErecent thymic emigrants

TIAtransient ischemic attack

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Author: Vassilios Lougaris - Vincenzo Salpietro - Maricia Cutrupi - Manuela Baronio - Daniele Moratto - M. R. Pizzino - Kshitij Ma


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