Protocol Number: 01-I-0202
Patients with diagnosed or suspected non-tuberculous mycobacterial infection, cystic fibrosis or Job syndrome may be eligible for this study. All participants will have a medical and family history, blood and urine tests, imaging studies that may include X-rays, computed tomography (CT) or magnetic resonance imaging (MRI) scans, and DNA and other genetic studies. In addition, all patients with Job syndrome and cystic fibrosis, and patients with NTM who have lung disease undergo the following procedures: - Scoliosis survey - X-rays of the spine to look for curvature or other abnormalities of the spinal column - Echocardiography - imaging test that uses sound waves to examine the heart chambers and valves - Electrocardiogram - measurement of the electrical activity of the heart - Pulmonary function tests - breathing tests to measure how much air the patient can move into and out of the lungs - Body measurements - measurements of height, weight, arm span, finger length, etc. - Joint function - assessment of joint mobility using different maneuvers to test flexibility of joints and ligaments - Examination of physical features that might be associated with NTM, such as high arched palate of the mouth, flat feet, or certain skin features - Dermatology (skin) examination for reactive skin conditions or other skin problems and possibly a skin biopsy (surgical removal of a small skin tissue sample for microscopic examination) - Interview with genetics specialist These tests may require several days to complete. Patients with NTM will also be examined by a cystic fibrosis specialist and may have a sweat test. In addition, NTM patients will be asked to return to NIH every year for 5 years for follow-up tests, if medically indicated, including CT of the chest, scoliosis survey and examination by other specialists.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/13/2009
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