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Hyperimmunoglobulin E syndrome

Definition

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

Alternative Names

Job syndrome; Hyper IgE syndrome

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 17. 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

A physical exam may show:

Tests used to confirm the diagnosis include:

An eye exam may reveal signs of dry eye syndrome.

A chest x-ray may reveal lung abscesses.

Other tests that may be done:

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:

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 in preventing skin infections.

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.

References

Chong H, Green T, Larkin A. Allergy and immunology. In: Zitelli, BJ, McIntire SC, Norwalk AJ. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed.  Philadelphia, PA: Elsevier; 2018:chap 4.

Holland SM, Gallin JI. Evaluation of the patient with suspected immunodeficiency. In: Bennett JE, Dolin R, Blaser MJ, eds. Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases, Updated Edition. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 12.

Hsu AP, Davis J, Puck JM, Holland SM, Freeman AF. Autosomal dominant hyper IgE syndrome. Gene Reviews. 2012;6. PMID: 20301786 www.ncbi.nlm.nih.gov/pubmed/20301786. Updated June 7, 2012. Accessed August 1, 2015.


Review Date: 8/6/2017
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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