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.
Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders / Palamaro, Loredana; Giardino, G.; Santamaria, Francesca; Ramenghi, U.; Dianzani, U.; Pignata, Claudio. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 38:(2012), pp. 42-42. [10.1186/1824-7288-38-42]
Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders
PALAMARO, LOREDANA;Giardino G.;SANTAMARIA, FRANCESCA;PIGNATA, CLAUDIO
2012
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.File | Dimensione | Formato | |
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