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Ital J Pediatr. 2012 Sep 12;38:42. doi: 10.1186/1824-7288-38-42.

Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders.

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  • 1Department of Pediatrics, Federico II University, Pansini 5, 80131, Naples, Italy.


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.

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