Hyperimmunoglobulin E syndrome

Answer 1

Definition

Hyperimmunoglobulin E syndrome is a rare, inherited disease associated with abnormalities of the skin, sinuses, lungs, bones, and teeth.

Alternative Names

Job syndrome; Hyper IgE syndrome

Causes, incidence, and risk factors

Hyperimmunoglobulin E syndrome is also know as Job syndrome, after the biblical character Job whose faithfulness was tested by a lifelong affliction of draining skin sores and pustules. People with this condition have chronic and severe skin infections.

The symptoms are usually 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 mutation (specifically, a change in the STAT3 gene on chromosome 4). How this gene abnormality causes the symptoms of the disease is not well understood, although it is known that people with the disease have higher-than-normal levels of an antibody called IgE.

Symptoms

• Persistent skin abscesses and infection
• Recurrent sinus infections
• Eczema
• Bone and tooth defects, including fractures and late shedding of baby teeth

Signs and tests

An eye exam may reveal signs of dry eye syndrome. A physical exam may show signs of osteomyelitis, curving of the spine (kyphoscoliosis), and recurrent sinus infections.

A chest x-ray may reveal lung abscesses.

Tests used to confirm a diagnosis include:

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

Other tests that may be done:

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

Treatment

There is no known cure for this condition. The goal of treatment is to control the recurrent infections. Medications include antibiotics. Antifungal and antiviral medications are prescribed when appropriate.

Sometimes, surgery is needed to drain abscesses.

Intravenous (IV, directly into a vein) gamma globulin may help build up the immune system temporarily when there are severe infections.

Expectations (prognosis)

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

Complications

• Repeated infections
• Sepsis

Calling your health care provider

Call your health care provider if you are experiencing or observing a collection of the above signs and symptoms.

Prevention

There is no proven prevention. Good general hygiene is helpful. Some doctors may recommend preventive antibiotics for people with many infections, particularly with Staphylococcus aureus. This does not change the underlying disorder but rather its consequences.

References

Genetics Home Reference (GHR). Job Syndrome. Feb 2008. Accessed Nov. 13, 2008.

Immune Deficiency Foundation. Immune Deficiency Foundation Patient & Family Handbook. Chapter 12: Hyper IgE Syndrome. 4th ed. 2007. Accessed Nov. 13, 2008.

Answer 2

Definition

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

Alternative Names

Job syndrome; Hyper IgE syndrome

Causes, incidence, and risk factors

Hyperimmunoglobulin E syndrome is also called Job syndrome, 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 usually 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) -- a change 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 higher-than-normal levels of an antibody called IgE.

Symptoms

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

Signs and tests

An eye exam may reveal signs of dry eye syndrome. A physical exam may 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 levels

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
• X-ray of the sinuses

A scoring system that combines the different problems of Job 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. Medications include:

• Antibiotics
• Antifungal and antiviral medications (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.

Expectations (prognosis)

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

Complications

• Repeated infections
• Sepsis

Calling your health care provider

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

Prevention

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

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

References

Genetics Home Reference (GHR). Job Syndrome. Feb 2008. Accessed Nov. 13, 2008.

Immune Deficiency Foundation. Immune Deficiency Foundation Patient & Family Handbook. Chapter 12: Hyper IgE Syndrome. 4th ed. 2007. Accessed Nov. 13, 2008.

Reviewed By

Review Date: 08/01/2011

John A. Daller, MD, PhD, Department of Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.