Title |
Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders
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Published in |
Italian Journal of Pediatrics, September 2012
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DOI | 10.1186/1824-7288-38-42 |
Pubmed ID | |
Authors |
Loredana Palamaro, Giuliana Giardino, Francesca Santamaria, Ugo Ramenghi, Umberto Dianzani, Claudio Pignata |
Abstract |
Clustering of Autoimmune Diseases (CAD) is now emerging as a novel clinical entity within monogenic immune defects with a high familial occurrence. Aim of this study is to evaluate the regulatory mechanisms governing cell survival, paying a particular attention to Fas-induced apoptosis, in a cohort of 23 children affected with CAD. In 14 patients, Fas stimulation failed to induce cell apoptosis and in 1 case it was associated with Fas gene mutation. Our study highlights the importance to evaluate cell apoptosis in the group of children with CAD, which, with this regard, represents a distinct clinical entity. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 5 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Professor | 1 | 20% |
Professor > Associate Professor | 1 | 20% |
Researcher | 1 | 20% |
Student > Doctoral Student | 1 | 20% |
Unknown | 1 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 3 | 60% |
Immunology and Microbiology | 1 | 20% |
Unknown | 1 | 20% |