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Hyper-IgE syndrome update

Kathryn J Sowerwine, Steven M Holland, Alexandra F Freeman

Annals of the New York Academy of Sciences 2012, 1250: 25-32

Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also our understanding of the pathogenesis of the disease has greatly improved.

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