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Autosomal dominant hyper IgE syndrome

Other Names for this Disease
  • AD hyperimmunoglobulin E syndrome
  • AD-HIES
  • HIES autosomal dominant
  • Hyper Ig E syndrome, autosomal dominant
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
More Names
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Overview


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), 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.[1]

References

  1. Job syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=jobsyndrome. Accessed November 13, 2008.
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General Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. Click on the link to view the information.
  • Genetics Home Reference (GHR) contains information on Autosomal dominant hyper IgE syndrome. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant hyper IgE syndrome. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Autosomal dominant hyper IgE syndrome. Click on the link to go to OMIM and review these resources.