View clinical trials related to DOCK8.
Filter by:Background: - Gene therapy is being investigated as a possible treatment for individuals with immunodeficiency diseases or other conditions that make it difficult to fight off infection. Gene therapy avoids problems with donor identification and possible rejection of bone marrow transplant by using the patient s own modified blood cells to help treat the disease. Researchers are interested in collecting stem cells from the blood of individuals with immunodeficiency diseases in order to use the cells to develop potential gene therapy treatments. Objectives: - To collect blood stem cells from patients with immunodeficiency diseases tto test our ability to correct the defects of these cells in the test tube. Eligibility: - Individuals between 18 and 40 years of age with immunodeficiency diseases. - Individuals with human immunodeficiency virus (HIV) will not be able to participate in this study. Design: - Participants will provide an initial blood sample for disease screening (such as hepatitis B and C, syphilis, or viruses like the Epstein-Barr virus, herpes simplex virus, or toxoplasmosis) and to check kidney and liver function. - Starting 5 days before blood donation, participants will receive daily injections of a drug called G-CSF (granulocyte colony stimulating factor, or filgrastim), which pushes stem cells out of the bone marrow and into the bloodstream. Participants will receive the injections at the National Institutes of Health Clinical Center. - On day 5, participants will have a single leukapheresis procedure to collect the stem cells from the blood. - No additional treatment will be provided as part of this protocol. The cells that are collected will be used fore experiments in the lab and will not be used to treat individuals with these diseases.
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.