Title |
Proteus syndrome: evaluation of the immunological profile
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, January 2016
|
DOI | 10.1186/s13023-015-0381-z |
Pubmed ID | |
Authors |
Vassilios Lougaris, Vincenzo Salpietro, Maricia Cutrupi, Manuela Baronio, Daniele Moratto, M. R. Pizzino, Kshitij Mankad, Silvana Briuglia, Carmelo Salpietro, Alessandro Plebani |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 67% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 16 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 4 | 25% |
Other | 2 | 13% |
Student > Doctoral Student | 2 | 13% |
Student > Postgraduate | 2 | 13% |
Student > Bachelor | 1 | 6% |
Other | 2 | 13% |
Unknown | 3 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 38% |
Agricultural and Biological Sciences | 1 | 6% |
Biochemistry, Genetics and Molecular Biology | 1 | 6% |
Immunology and Microbiology | 1 | 6% |
Computer Science | 1 | 6% |
Other | 0 | 0% |
Unknown | 6 | 38% |