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Genetic and Rare Diseases Information Center (GARD)

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Hyper IgE syndrome


Other Names for this Disease
  • HIES
  • Hyper-IgE recurrent infection syndrome
  • Hyperimmunoglobulin E syndrome
  • Job syndrome
  • Job's syndrome
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Overview


Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES).[1] Individuals with AD-HIES may also have varying degrees of connective tissue, skeletal, and dental abnormalities as well as a distinctive facial appearance. This form is inherited in an autosomal dominant manner and is caused by mutations in the STAT3 gene in about 70% of cases.[2] Unique characteristics of AR-HIES include extreme hypereosinophilia; susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; central nervous system involvement; T-cell defects; and a high death rate. AR-HIES is inherited in an autosomal recessive manner and is often caused by mutations in the DOCK8 gene.[3]
Last updated: 10/10/2012

References

  1. Alexandra F Freeman and Steven M Holland. The Hyper IgE Syndromes. Immunol Allergy Clin North Am. May 2008; 28(2):277.
  2. Bodo Grimbacher and Cristina Woellner. Autosomal dominant hyper IgE syndrome. Orphanet. June 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2314. Accessed 10/10/2012.
  3. Bodo Grimbacher and Cristina Woellner. Autosomal recessive hyper IgE syndrome. Orphanet. June 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169446. Accessed 10/10/2012.
Your Questions Answered
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2 question(s) from the public on Hyper IgE syndrome have been answered. See questions and answers. You can also submit a new question.

Basic 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.
  • Genetics Home Reference (GHR) contains information on Hyper IgE syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
  • 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. 

In Depth 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 Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of hyper IgE syndrome. Click on the links below to go to OMIM and review these resources.
    Autosomal dominant hyper IgE syndrome
    Autosomal recessive hyper IgE syndrome
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyper IgE syndrome. Click on the link to view a sample search on this topic.