Frequent and Widespread Vascular Abnormalities in Human Signal Transducer and Activator of Transcription 3 Deficiency
Author(s) -
MarieOlivia Chandesris,
Arshid Azarine,
Kim-Thanh Ong,
Soraya Taleb,
Pierre Boutouyrie,
Élie Mousseaux,
Mélissa Romain,
Erwan Bozec,
Stéphane Laurent,
Nathalie Boddaert,
C. Thumerelle,
Isabelle TillieLeblond,
C. Hoarau,
Yvon Lebranchu,
Nathalie Aladjidi,
François Tron,
Vincent Barlogis,
Gérard Body,
M Munzer,
R. Jaussaud,
Felipe Suárez,
Olivier Clémеnt,
Olivier Hermine,
Alain Tedgui,
Olivier Lortholary,
Capucine Pïcard,
Ziad Mallat,
Alain Fischer
Publication year - 2011
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-325X
pISSN - 1942-3268
DOI - 10.1161/circgenetics.111.961235
Subject(s) - medicine , pathology , vascular remodelling in the embryo , hyperintensity , population , magnetic resonance imaging , cardiology , radiology , environmental health
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 features have yet to be described.
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