Primary Immunodeficiency clinical trials

Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders

Background: - National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in this system can make a person sick. - To study the cells of patients who have problems with their immune systems, researchers would like to collect samples of skin cells from patients with immune system disorders and compare them with skin cells taken from healthy volunteers. By studying these cells, researchers hope to determine whether these cells can be modified to create a new kind of personalized gene therapy that would attempt to cure immune diseases in the future. Objectives: - To obtain skin cells from patients with immune system disorders and from healthy volunteers for research and comparison purposes. Eligibility: - Patients between the ages of 2 and 85 who have immune system disorders. - Healthy volunteers between the ages of 18 and 85. - Both groups will be selected from the eligible participants of existing NIH studies into immune system disorders. Design: - Researchers may take up to two biopsies from participants arms, legs, abdomen, or back. - The biopsy site will be numbed with local anesthetic and cleaned before the sample is taken. - The punch skin biopsy needle will be inserted into the skin and rotated to remove a small circle of skin (approximately 1/4 to 3/8 of an inch across). The area will be closed with bandages or stitches, and then covered with a dressing. Any stitches will be removed in 7 to 10 days. - Tissue samples collected in the study will be stored for future research.