%0 Journal Article
%T Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders
%A Palamaro Loredana
%A Giardino Giuliana
%A Santamaria Francesca
%A Ramenghi Ugo
%J The Italian Journal of Pediatrics
%D 2012
%I BioMed Central
%R 10.1186/1824-7288-38-42
%X 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.
%K Clustering of autoimmune diseases
%K Fas
%K Apoptosis
%K ALPS
%U http://www.ijponline.net/content/38/1/42