Hyper IgE (Job’s) syndrome: a primary immune deficiency with oral manifestations
Article first published online: 25 NOV 2008
© 2008 John Wiley & Sons A/S. This article is a US Government work and is in the public domain in the USA.
Volume 15, Issue 1, pages 2–7, January 2009
How to Cite
Freeman, A., Domingo, D. and Holland, S. (2009), Hyper IgE (Job’s) syndrome: a primary immune deficiency with oral manifestations. Oral Diseases, 15: 2–7. doi: 10.1111/j.1601-0825.2008.01463.x
- Issue published online: 10 DEC 2008
- Article first published online: 25 NOV 2008
- Received 16 May 2008; accepted 19 May 2008
- hyper IgE syndrome;
- Job’s syndrome;
- primary teeth retention
Autosomal dominant hyper IgE (HIES or Job’s) syndrome is a rare primary immune deficiency characterized by eczema, recurrent skin and lung infections, extremely elevated serum IgE, and a variety of connective tissue and skeletal abnormalities. Individuals with HIES share a characteristic facial appearance and many oral manifestations including retained primary dentition, a high arched palate, variations of the oral mucosa and gingiva, and recurrent oral candidiasis. Mutations in STAT3 account for the majority, if not all, of the cases of autosomal dominant HIES, but the pathogenesis of the many varied features remains poorly understood. In this review, we discuss the clinical phenotype of HIES including immunologic and non-immunologic features, the genetics of HIES, and treatment.