Article
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Journal of clinical immunology - 1 Aug 2020
Saettini Francesco, Herriot Richard, Prada Elisabetta, Nizon Mathilde, Zama Daniele, Marzollo Antonio, Romaniouk Igor, Lougaris Vassilios, Cortesi Manuela, Morreale Alessia, Kosaki Rika, Cardinale Fabio, Ricci Silvia, Domínguez-Garrido Elena, Montin Davide, Vincent Marie, Milani Donatella, Biondi Andrea, Gervasini Cristina, Badolato Raffaele
Abstract excerpt
Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation having been reported. The objective of this study was to investigate primary immunodeficiency (PID) and immune dysregulation in an international cohort of...
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