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Hyperimmunoglobulin E syndrome

Definition

Hyperimmunoglobulin E syndrome is a rare, genetic 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 that takes place in the STAT3gene 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 a type of 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:

• Curving of the spine (kyphoscoliosis)

• Osteomyelitis

• Repeat sinus infections

Tests used to confirm the diagnosis include:

• Absolute eosinophil count

• CBC with blood differential

• Serum globulin electrophoresis to look for high blood IgE level

• Genetic testing of STAT3 gene

An eye exam may reveal signs of dry eye syndrome.

A chest x-ray may reveal lung abscesses.

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 may be 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)

Surgery is sometimes 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

Contact 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

Albright D, Larkin A, Chong HJ. Allergy and immunology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023: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. 9th ed. Philadelphia, PA: Elsevier; 2020:chap 12.

Verbsky JW, Routes JM. Pulmonary complications of primary immunodeficiencies. In: Broaddus VC, Ernst JD, King TE, et al, eds. Murray & Nadel's Textbook of Respiratory Medicine. 7th ed. Philadelphia, PA: Elsevier; 2022:chap 124.

Review Date: 9/18/2023

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