Open Access Open Badges Letter to the Editor

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

Loredana Palamaro1, Giuliana Giardino1, Francesca Santamaria1, Ugo Ramenghi2, Umberto Dianzani2 and Claudio Pignata1*

Author Affiliations

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

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Italian Journal of Pediatrics 2012, 38:42  doi:10.1186/1824-7288-38-42

Published: 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.

Clustering of autoimmune diseases; Fas; Apoptosis; ALPS