AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.
To the Editor Autosomal dominant hyper-IgE syndrome (AD-HIES) is a primary immunodeficiency characterized by severe eczema, elevated serum IgE levels, and increased susceptibility to infection with Staphylococcus aureus and Candida albicans . Typical non-immunologic features include joint hyperflexibility, delayed shedding of deciduous teeth, fractures due to minor trauma, and vascular anomalies.
|Authors||Moens, L.; Schaballie, H.; Bosch, B.; Voet, A.; Bossuyt, X.; Casanova, JL.; Boisson-Dupuis, S.; Tangye, SG.; Meyts, I.|
|Responsible Garvan Author||Prof Stuart Tangye|
|Publisher Name||JOURNAL OF CLINICAL IMMUNOLOGY|
|URL link to publisher's version||https://www.ncbi.nlm.nih.gov/pubmed/27844301|
|OpenAccess link to author's accepted manuscript version||https://publications.gimr.garvan.org.au/open-access/14013|