Protocol Number: 00-I-0159

Title:

Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection (Job) Syndrome

Number:

00-I-0159

Summary:

The study will evaluate patients with hyperimmunoglobulin E (HIE) recurrent infection in order to characterize the medical problems associated with this rare inherited disease, identify and treat complications, and do tests to identify the gene, or genes responsible for it. People with HIE have recurrent bacterial (staphylococcal) infections of the ears, sinuses, lungs or skin and elevated levels of the antibody immunoglobulin E. They may also have scoliosis (curvature of the spine), weak bones and recurrent bone fractures, strokes or other brain problems, severe itching and skin inflammation, and problems with baby teeth not falling out.

Patients of any age with HIE syndrome and their relatives may participate in this study. Patients will be evaluated by specialists in genetics, dermatology, bone metabolism, dental, radiology, neurology and immunology. Specific procedures may include the following:

1. Medical history and physical examination

2. Blood and urine collection for routine tests

3. Blood collection for chromosome study, for DNA (genetic) testing and for growing certain cell lines that, with special care, will not die so they can be used for testing later

4. Skin examination

5. Family history interview with genetics specialists

6. Neurology examination to test reflexes, strength, balance and movement

7. Magnetic resonance imaging (MRI) of the brain

8. Dental examination and X-rays, if needed, to look for abnormal loss or retention of baby teeth

9. Computed tomography (CT) scan of the chest to examine the lungs

10. Skeletal survey, including X-rays of the spine and several joints, bone densitometry (test to measure bone density), blood and urine tests to measure substances that indicate how fast new bone is made

11. Pulmonary function test, using a breathing machine to see what volume of air the lungs can hold

12. Skin biopsy (removal of small sample of skin tissue, under local anesthetic, for microscopic testing) for gene research purposes

13. Bone biopsy (removal of small sample of bone tissue from the hip, under local anesthetic, for microscopic examination) for research on bone fractures

Patients will be followed once a year for five years. At each visit, they will have a MRI scan of the brain, CT scan of the chest, bone densitometry test, skin examination and dental examination. Patients with scoliosis will all have spine films.

Family members will have a physical examination, an interview with genetics specialists, and blood tests for cell counts, measurement of immunoglobulin E, and genetic studies. Some family members will also have cell lines made.

Sponsoring Institute:

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Patients must be referred to the NIH with a diagnosis or a suspicion of the Job syndrome. Family members of probands and patients referred for other immune syndromes that demonstrate some the characteristics of Job's syndrome may also be evaluated under this protocol.

Male and female patients from birth to 105 years will be accepted.

EXCLUSION CRITERIA:

Pregnant women are excluded only from any procedure or test that may endanger the pregnancy or the fetus due to the risk from radiographic studies, anesthesia, or certain biopsies.

Special Instructions: Currently Not Provided

Keywords:

IgE

Fractures

Pneumonia

Scoliosis

Eczema

Recruitment Keywords:

Job's Syndrome

Hyperimmunologobulin E Syndrome

HIE Syndrome

Conditions:

Job's Syndrome

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Fatal histiocytic lymphoma of the brain associated with hyperimmunoglobulinemia-E and recurrent infections

Recurrent severe staphylococcal infections, eczematoid rash, extreme elevations of IgE, eosinophilia, and divergent chemotactic responses in two generations

Extreme hyperimmunoglobulin E and undue susceptibility to infection

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

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Warren Grant Magnuson Clinical Center (CC)
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Bethesda, Maryland 20892. Last update: 10/23/2004