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.

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

RAMENGHI, Ugo;
2012

Abstract

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.
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Clustering of autoimmune diseases; Fas; Apoptosis; ALPS
Palamaro L; Giardino G; Santamaria F; Ramenghi U; Dianzani U; Pignata C.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/121338
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