title: Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders.
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.
authors.affiliation: Department of Pediatrics, Federico II University, Pansini 5, 80131, Naples, Italy.
authors.forename: Loredana
authors.initials: L
authors.lastname: Palamaro
authors.forename: Giuliana
authors.initials: G
authors.lastname: Giardino
authors.forename: Francesca
authors.initials: F
authors.lastname: Santamaria
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.forename: Umberto
authors.initials: U
authors.lastname: Dianzani
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
mesh_terms: D017209:Apoptosis / Q000235:genetics / Q000276:immunology; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology*; D002470:Cell Survival / Q000235:genetics / Q000276:immunology*; D002648:Child; D006801:Humans; D016130:Immunophenotyping; D013601:T-Lymphocytes / Q000276:immunology; D019014:fas Receptor / Q000235:genetics / Q000276:immunology
chemical_list: D019014:fas Receptor