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Autosomal dominant hyperimmunoglobulin E syndrome

Attila Kumánovics, MD
Timothy R LaPine, MD
Harry R Hill, MD
Section Editor
Jordan S Orange, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS


A syndrome of recurrent staphylococcal abscesses, sinopulmonary infections, and severe eczema was described in 1966 in two red-haired girls [1]. The condition was initially called "Job syndrome," based upon a description of the biblical character Job: "so went Satan forth from the presence of the Lord and smote Job with sore boils from the sole of his foot unto his crown" (Job, II, 7). The cutaneous abscesses in patients with this disorder appeared "cold" (ie, lacking the typical signs of inflammation).

This disorder was later termed hyperimmunoglobulin E, recurrent infection syndrome (HIES) when an associated increase in serum levels of immunoglobulin E (IgE) was described [2,3]. Subsequent work revealed a broader array of clinical features and defined some of the functional defects in immune regulation in patients with classic autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES)/Job syndrome. Autosomal recessive disorders with a similar presentation were also identified.

This topic reviews the epidemiology, pathogenesis, diagnosis, and management of AD-HIES. Related disorders, such as dedicator of cytokinesis 8 (DOCK8) deficiency (while mentioned here as an autosomal recessive cause of HIES), are discussed in detail separately. (See "Combined immunodeficiencies", section on 'Dedicator of cytokinesis 8 deficiency'.)

Patients with this syndrome have characteristic facial features and skeletal findings, and have recurrent infections (principally bacterial and Candida infections) and dermatitis [3-5].

In addition to elevated levels of serum IgE, there are abnormalities in the inflammatory process and associated immune regulatory defects.

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Literature review current through: Nov 2017. | This topic last updated: Nov 29, 2017.
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