Proteus syndrome: evaluation of the immunological profile

Orphanet Journal of Rare Diseases

Alessandro Plebani³  Carmelo Salpietro⁴  Silvana Briuglia⁴  Kshitij Mankad²  M. R. Pizzino⁴  Daniele Moratto¹  Manuela Baronio³  Maricia Cutrupi⁴  Vincenzo Salpietro⁴  Vassilios Lougaris³ 

[1] 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;Department of Radiology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK;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;Department of Pediatrics, Unit of Pediatric Genetics and Immunology, University of Messina, Messina, Italy

关键词: T cells;    B cells;    Overgrowth;    Proteus syndrome;   

Others  :  1235467
DOI  :  10.1186/s13023-015-0381-z

 received in 2015-11-09, accepted in 2015-12-28,  发布年份 2016

【 摘 要 】

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.

【 授权许可】

   
2016 Lougaris et al.

【 图 表 】

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