Publications
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.
Abstract
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 [1]. Typical non-immunologic features include joint hyperflexibility, delayed shedding of deciduous teeth, fractures due to minor trauma, and vascular anomalies.
| Type | Journal |
|---|---|
| Authors | Moens, L.; Schaballie, H.; Bosch, B.; Voet, A.; Bossuyt, X.; Casanova, JL.; Boisson-Dupuis, S.; Tangye, SG.; Meyts, I. |
| Responsible Garvan Author | Professor Stuart Tangye |
| Publisher Name | JOURNAL OF CLINICAL IMMUNOLOGY |
| Published Date | 2017-01-31 |
| Published Volume | 37 |
| Published Issue | 1 |
| Published Pages | 12-17 |
| Status | Published in-print |
| DOI | 10.1007/s10875-016-0351-9 |
| 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 |