Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders
1 Department of Pediatrics, “Federico II” University, Pansini 5, 80131, Naples, Italy
2 Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) and Department of Medical Science, “A. Avogadro” University, Eastern Piedmont, Novara, Italy
Italian Journal of Pediatrics 2012, 38:42 doi:10.1186/1824-7288-38-42Published: 12 September 2012
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.