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Hyper IgE syndrome
Other Names for this Disease
- Hyper-IgE recurrent infection syndrome
- Hyperimmunoglobulin E syndrome
- Job syndrome
- Job's syndrome
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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). 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. 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.
- Alexandra F Freeman and Steven M Holland. The Hyper IgE Syndromes. Immunol Allergy Clin North Am. May 2008.
- Bodo Grimbacher and Cristina Woellner. Autosomal dominant hyper IgE syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2314. Accessed October 10, 2012.
- Bodo Grimbacher and Cristina Woellner. Autosomal recessive hyper IgE syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169446. Accessed October 10, 2012.
On this page
- 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 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 Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- 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
- 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.
- 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.