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An update on the hyper-IgE syndromes

Patrick FK Yong1, Alexandra F Freeman2, Karin R Engelhardt34, Steven Holland2, Jennifer M Puck5 and Bodo Grimbacher34*

Author Affiliations

1 Department of Immunology, Barts Health NHS Trust, London E1 2ES, UK

2 Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, 20892-1684, USA

3 Department of Immunology and Molecular Pathology, Royal Free Hospital & University College London, London NW3 2QG, UK

4 Centre for Chronic Immunodeficiency, University Medical Center Freiburg and the University of Freiburg, Engesser Straße 4, 79108 Freiburg, Germany

5 University of California, San Francisco, CA 94143-0519, USA

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Arthritis Research & Therapy 2012, 14:228  doi:10.1186/ar4069

Published: 30 November 2012


The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally results in connective tissue, skeletal, vascular and dental abnormalities. Autosomal recessive HIES has been shown to be mainly due to mutations in DOCK8; these patients are more prone to viral skin infections instead. This review article discusses the common clinical features of the syndrome, the genetic mutations responsible and the pathogenesis of the disease, as well as treatments currently used.