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.
Lougaris, V., Salpietro, V., Cutrupi, M., Baronio, M., Moratto, D., Pizzino, M. R., … Plebani, A. (2016). Proteus syndrome: Evaluation of the immunological profile. Orphanet Journal of Rare Diseases, 11(1). https://doi.org/10.1186/s13023-015-0381-z