Article
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency.
Circulation. Cardiovascular genetics - 1 Feb 2012
Chandesris Marie-Olivia, Azarine Arshid, Ong Kim-Thanh, Taleb Soraya, Boutouyrie Pierre, Mousseaux Elie, Romain Mélissa, Bozec Erwan, Laurent Stéphane, Boddaert Nathalie, Thumerelle Caroline, Tillie-Leblond Isabelle, Hoarau Cyrille, Lebranchu Yvon, Aladjidi Nathalie, Tron François, Barlogis Vincent, Body Gérard, Munzer Marine, Jaussaud Roland, Suarez Felipe, Clément Olivier, Hermine Olivier, Tedgui Alain, Lortholary Olivier, Picard Capucine, Mallat Ziad, Fischer Alain
Abstract excerpt
BACKGROUND: Signal transducer and activator of transcription 3 (STAT3) deficiency is responsible for autosomal dominant hyperimmunoglobulin E syndrome, characterized by recurrent bacterial and fungal infections, connective tissue abnormalities, hyperimmunoglobulin E, and Th17 lymphopenia. Although vascular abnormalities have been reported in some patients, the prevalence, characteristics, and etiology of these...
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