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Hyperimmunoglobulin E syndrome

Job syndrome; Hyper IgE syndrome

 

Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes problems with the skin, sinuses, lungs, bones, and teeth.

Causes

 

Hyperimmunoglobulin E syndrome is also called Job syndrome. It is named after the biblical character Job whose faithfulness was tested by an affliction with draining skin sores and pustules . People with this condition have long-term, severe skin infections.

The symptoms are most often present in childhood, but because the disease is so rare, it often takes years before a correct diagnosis is made.

Recent research suggests that the disease is often caused by a genetic change (mutation) that takes place in the STAT3 gene on chromosome 4. How this gene abnormality causes the symptoms of the disease is not well understood. However, people with the disease have a higher-than-normal level of an antibody called IgE.

 

Symptoms

 

Symptoms include:

  • Bone and tooth defects, including fractures and losing the baby teeth late
  • Eczema
  • Skin abscesses and infection
  • Repeated sinus infections
  • Repeated lung infections

 

Exams and Tests

 

An eye exam may reveal signs of dry eye syndrome . A physical exam may also show:

  • Curving of the spine ( kyphoscoliosis )
  • Osteomyelitis
  • Repeat sinus infections

A chest x-ray may reveal lung abscesses.

Tests used to confirm the diagnosis include:

  • Absolute eosinophil count
  • CBC with blood differential
  • Serum globulin electrophoresis to look for high blood IgE level

Other tests that may be done:

  • CT scan of the chest
  • Cultures of the infected site
  • Special blood tests to check parts of the immune system
  • X-ray of the bones
  • CT scan of the sinuses

A scoring system that combines the different problems of Hyper IgE syndrome is used to help make the diagnosis.

 

Treatment

 

There is no known cure for this condition. The goal of treatment is to control the infections. Medicines include:

  • Antibiotics
  • Antifungal and antiviral medicines (when appropriate)

Sometimes, surgery is needed to drain abscesses.

Gamma globulin given through a vein (IV) may help build up the immune system if you have severe infections.

 

Outlook (Prognosis)

 

Hyper IgE syndrome is a lifelong chronic condition. Each new infection requires treatment.

 

Possible Complications

 

Complications may include:

  • Repeated infections
  • Sepsis

 

When to Contact a Medical Professional

 

Call your health care provider if you have symptoms of Hyper IgE syndrome.

 

Prevention

 

There is no proven way to prevent Hyper IgE syndrome. Good general hygiene is helpful.

Some providers may recommend preventive antibiotics for people who develop many infections, especially with Staphylococcus aureus . This treatment does not change the condition, but it can lessen its complications.

 

 

Open References

References

Fischer A. Primary Immune Deficiency Diseases. In: Kasper DL, Fauci AS, Hauser SL, Longo DL, Jameson JL, Loscalzo J. eds. Harrison's Principles of Internal Medicine . 19th ed. New York, NY: McGraw-Hill; 2015;chap 374.

Hsu AP, Davis J, Puck JM, et al. Autosomal dominant hyper IgE syndrome. Gene Reviews. Seattle, WA: University of Washington; 2012;6. PMID: 20301786 www.ncbi.nlm.nih.gov/pubmed/20301786 . Accessed August 1, 2015.

 

        A Closer Look

         

          Talking to your MD

           

            Self Care

             

              Tests for Hyperimmunoglobulin E syndrome

               
                 

                Review Date: 8/1/2015

                Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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