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

Ital J Pediatr. 2012 Sep 12:38:42. doi: 10.1186/1824-7288-38-42.

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.

MeSH terms

  • Apoptosis / genetics
  • Apoptosis / immunology
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Cell Survival / genetics
  • Cell Survival / immunology*
  • Child
  • Humans
  • Immunophenotyping
  • T-Lymphocytes / immunology
  • fas Receptor / genetics
  • fas Receptor / immunology

Substances

  • fas Receptor