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

Italian Journal of Pediatrics

Claudio Pignata²  Umberto Dianzani¹  Ugo Ramenghi¹  Francesca Santamaria²  Giuliana Giardino²  Loredana Palamaro² 

[1] Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) and Department of Medical Science, “A. Avogadro” University, Eastern Piedmont, Novara, Italy;Department of Pediatrics, “Federico II” University, Pansini 5, 80131, Naples, Italy

关键词: ALPS;    Apoptosis;    Fas;    Clustering of autoimmune diseases;   

Others  :  825762
DOI  :  10.1186/1824-7288-38-42

 received in 2012-08-30, accepted in 2012-09-06,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Palamaro et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1 .

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