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Hyper IgE Syndrome
Tuesday, 17 June 2003
Monday, 29 November 2004
Job Syndrome

What

A suspected genetic defect that results in the production of high levels of the antibody immunoglobulin E (IgE), causing serious skin and lung infections as well as eczema, a chronic condition characterized by scaly and itching rashes.

Who

Hyper IgE syndrome can run in families with high frequency. In most cases it is inherited in a dominant fashion meaning that only one damaged copy of the gene is needed to have the disease. The condition also appears to occur spontaneously in all racial and ethnic groups.

Signs and Symptoms

Persistent skin abscesses and infection. These abscesses are characteristic in that they are not very warm or tender, unlike the boils and abscess that most people get. Recurrent sinusitis Eczema Chronic Runny Nose Asthma Recurrent skin infections High incidence of lung infections Older patients exhibit coarse faces, a prominent forehead, a broad nasal bridge, and a bulbous nose. Midline facial anomalies such as cleft lip and palatal (roof of mouth) abnormalities may be observed. Patients are also at high risk for bone fractures and some specific problems with their teeth.

Possible Causes

The molecular basis for the syndrome remains unknown. Some believe that the immunologic basis arises from a deficiency in the ability of suppressor T cells to inhibit IgE production. The condition, as a result, increases the individual’s chances of getting infections. The most commonly involved bacteria is Staphylococcus aureus. Other common organisms are Streptococcus pneumoniae (bacterium), Hemophilus influenzae (bacterium), Candida albicans (yeast), and the herpes virus.

Diagnosis

The diagnosis is based on the overall picture, though several tests are used to help indentify Hyper IgE syndrome: High serum levels are detected in blood samples Marked eosinophilia (an increase in a specific type of white blood cells) A blood analysis to detect if there is poor response to movement of cells , especially certain white cells—also known as chemotaxis ( i.e. defective chemotaxis leads to poor response of cells towards infection). There is no one specific test that will confirm or refute the diagnosis.

Treatment

The goal of treatment is control of the recurrent infections. Medications include intermittent or continous antibiotic treatment of infections with an appropriate antibiotic for the organism causing the infection. Antifungal agents are prescribed when appropriate. Antiviral agents are given when appropriate. In addition, surgery is often needed to drain abscesses. During severe infections, intravenous gamma globulin (IVIG) protein may help to build up the immune system temporarily when there are severe infections.

Prognosis

Hyper IgE Syndrome is a life-long condition requiring treament for each new infection. Some complications include repeated infection and sepsis (bloodstream infection). Some physicians, however, recommend good general hygiene as a preventitive measure.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

E-Medicine
A comprehensive article on Hyper IgE sundrome with specific information on diagnosis and treatment.

Clinical Trials.Gov
A list of ongoing clinical trials relating to Hyper IgE Syndrome.

Google Search for Hyper IgE Syndrome

References and Sources

Mandell: Principles and Practice of Infectious Diseases, 5th ed., Copyright © 2000 Churchill Livingstone, Inc. 101, 152-153 www.mdconsult.com