宿主防御欠陥の検出と特徴付け

This protocol is designed to evaluate selected patients with documented recurrent or unusual infections and their family members for clinical and laboratory correlates of immune abnormalities. It allows long term follow up of patients with host defense defects and permits the periodic study of their blood, urine, saliva, skin, other fluids, stool, vaginal specimens or wound drainage from such patients or their family members for medically indicated purposes and research studies related to understanding the genetic and biochemical bases of these diseases. This protocol may help provide patients and materials for the development of therapies for these diseases.

This study will:

1. Determine the biochemical and genetic causes of inherited immune diseases affecting phagocytes (white blood cells that defend against bacterial and fungal infections)
2. Try to develop better ways to diagnose and treat patients with these diseases, and to prevent, diagnose and treat their infections

Patients and family members may undergo the following procedures:

• A personal and family medical history, physical examination and other procedures, which may include various blood tests; urinalysis; saliva collection; imaging studies such as chest X-ray, computed tomography (CT) or magnetic resonance imaging (MRI); and lung function studies, dental examination or eye examinations, if medically indicated.
• Patients who have draining wounds will have fluid collected from these wounds for biochemical study.
• Tissues removed as part of medical care, such as pieces of lung, liver, or teeth, or biopsies of these tissues will be studied.
• Patients who have an immune problem that investigators wish to study further will be asked to return to NIH for follow-up visits at irregular intervals, but at least every 6 months. The visits will include an updated medical history, examination directed at the particular medical problem related to the immune disorder, follow-up of abnormal tests or treatment, and collection of blood, saliva, urine, other fluids, or wound fluid for study.
• Patients may have genetic testing and must be willing to have specimens stored for future research.
• Family members will have a medical history, saliva or urine collection, and chest X-ray or other imaging study, if medically indicated.
• Normal volunteers who have had tissue biopsies or pieces of tissue removed as part of medical care, such as pieces of lung, liver, or teeth, will have these tissues studied.
• NIH does not cover the cost of the initial screening visit for travel or lodging. A financial assessment may determine if the patient is eligible for financial assistance. This study does not enroll children under the age of 2.
• Patients will be asked to obtain their medical records, previous test results, or imaging studies prior to the first visit.