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:
- Medical history and physical examination
- Blood and urine collection for routine tests
- 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
- Skin examination
- Family history interview with genetics specialists
- Neurology examination to test reflexes, strength, balance and movement
- Magnetic resonance imaging (MRI) of the brain
- Dental examination and X-rays, if needed, to look for abnormal loss or retention of baby teeth
- Computed tomography (CT) scan of the chest to examine the lungs
- 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
- Pulmonary function test, using a breathing machine to see what volume of air the lungs can hold
- Skin biopsy (removal of small sample of skin tissue, under local anesthetic, for microscopic testing) for gene research purposes
- 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.