Autosomal dominant hyper IgE syndrome
Other Names for this Disease
- AD hyperimmunoglobulin E syndrome
- HIES autosomal dominant
- Hyper Ig E syndrome, autosomal dominant
- Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
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eczema, and occasionally bone and tooth abnormalities. The eczema and skin infections may cause rashes, blisters, collections of pus (abscesses), open sores, and scaling of the skin. Some cases of AD-HIES are caused by mutations in the STAT3 gene. In other cases, the cause is unknown.Autosomal dominant hyper IgE syndrome (AD-HIES), formerly known as Job syndrome, affects several body systems including the immune system. AD-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood. Signs and symptoms may include recurrent infections (e.g., pneumonia, skin infections),
Last updated: 8/25/2010
- Job syndrome. Genetics Home Reference (GHR). February 2008; http://ghr.nlm.nih.gov/condition=jobsyndrome. Accessed 11/13/2008.
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- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Autosomal dominant hyper IgE syndrome. This website is maintained by the National Library of Medicine.
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- The National Institute of Allergy and Infectious Diseases (NIAID) supports scientists developing better ways to diagnose, treat, and prevent the many infectious, immunologic, and allergic diseases that afflict people worldwide. Click on the link to view information on this topic.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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