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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 Prof Stuart Tangye
Publisher Name JOURNAL OF CLINICAL IMMUNOLOGY
Published Date 2017-01-31 00:00:00
Published Volume 37
Published Issue 1
Published Pages 12-17
Status Published in-print
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/14013