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

Loredana Palamaro, Giuliana Giardino, Francesca Santamaria, Ugo Ramenghi, Umberto Dianzani, Claudio Pignata

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number42
JournalItalian Journal of Pediatrics
Volume38
Issue number1
DOIs
Publication statusPublished - 2012

Keywords

  • ALPS
  • Apoptosis
  • Clustering of autoimmune diseases
  • Fas

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