title: Proteus syndrome: evaluation of the immunological profile.
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.
authors.affiliation: 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.
authors.forename: Vassilios
authors.initials: V
authors.lastname: Lougaris
authors.affiliation: Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Salpietro
authors.affiliation: Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy.
authors.forename: Maricia
authors.initials: M
authors.lastname: Cutrupi
authors.affiliation: 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.
authors.forename: Manuela
authors.initials: M
authors.lastname: Baronio
authors.affiliation: Institute for Molecular Medicine A. Nocivelli, and Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Moratto
authors.affiliation: Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy.
authors.forename: M R
authors.initials: MR
authors.lastname: Pizzino
authors.affiliation: Department of Radiology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK.
authors.forename: Kshitij
authors.initials: K
authors.lastname: Mankad
authors.affiliation: Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Briuglia
authors.affiliation: Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Salpietro
authors.affiliation: 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.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000276:immunology; D005260:Female; D006801:Humans; D016715:Proteus Syndrome / Q000150:complications / Q000175:diagnosis* / Q000276:immunology*; D011655:Pulmonary Embolism / Q000175:diagnosis / Q000209:etiology / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology