Mycobacterial Infections

Study of Mycobacterial Infections

This study will examine the symptoms, course of disease and treatment of non-tuberculous mycobacterial (NTM) infections, as well as the genetics involved in these infections. Patients with NTM have recurrent lung infections and sometimes infections of the skin and other organs as well. They may also have curvature of the spine, barrel chest, and heart valve weakness.

The study will compare the features of NTM with those of Job syndrome and cystic fibrosis, other diseases involving recurrent infections of the lungs and possibly other organs. We seek to better characterize the predisposition to mycobacterial infection. This study will specifically address several aspects of immune function and investigate the proposed link to body morphotype in the relevant population. By collecting this information, we hope to provide insight into disease associations, infection susceptibility, and genetic predisposition to mycobacterial infection.

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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