View clinical trials related to Common Variable Immunodeficiency.
Filter by:This is a standard of care treatment guideline for allogeneic hematopoetic stem cell transplant (HSCT) in patients with primary immune deficiencies.
Background: - Bronchiectasis is a disease characterized by airways that are inflamed, abnormally dilated, and chronically infected. Individuals with bronchiectasis have a history of chronic and recurring respiratory infections. Depending on the underlying cause, these infections may involve the entire respiratory tract, resulting in sinus, ear, and lung disease. - Bronchiectasis continues to be a significant problem in developing countries and in specific groups of individuals, particularly in people who have cystic fibrosis. Although treatments are available or under development for bronchiectasis related to cystic fibrosis, many of the disease-specific treatments may not be effective for bronchiectasis not related to cystic fibrosis. Objectives: - To study the natural history of bronchiectasis to identify inherited and immune factors that may explain why certain individuals have chronic recurring infections. Eligibility: - Individuals 5 years of age and older who have an established diagnosis of bronchiectasis or a history of chronic/recurring respiratory infections. - Direct family members (e.g., parents, siblings, children) of patients in the study may also be asked to participate. Design: - Potential participants will be screened with an initial clinic evaluation and full medical history, as well as a general quality of life and respiratory symptom questionnaire. - The following standard procedures may be done as part of the study: air sampling from the nose; imaging studies, which may include an x-ray or computed tomography (CT), lung function tests; and collection of samples of blood, urine, and sputum (phlegm or mucus). Other tests may be performed as required by the researchers, and will be explained to patients as needed. - Both patients and relatives (if asked to participate) will provide the following samples: blood or buccal (cheek swab) cells for genetic testing, sputum, and urine. - To prevent infections and potential disease progression, patients may receive standard medical care and treatment for bronchiectasis and related infections during this protocol.
This study will explore the cause of immunodeficiency in common variable immunodeficiency (CVI) and other related immunodeficiency syndromes-IgA deficiency, hyper IgM syndrome, thymoma and agammaglobulinemia, hypogammaglobulinemia associated with Epstein-Barr infection, and others to better focus on how to correct the underlying defect. Patients with CVI and their family members may participate in this study. Family members must be between the ages of 18 and 85, in good health and weigh at least 110 pounds. Patients will receive standard medical care for their illness. Procedures may include a medical history and physical examination, routine blood tests, stool examination for infectious agents, lung function tests, chest and sinus X-rays. Treatment may include administration of immune serum globulin, antibiotics for infections, and anti-inflammatory drugs, if needed. In addition, patients may undergo the following: - Lymphapheresis: This procedure is done to collect large numbers of white blood cells (lymphocytes). Blood is collected through a needle in an arm vein, similar to donating blood. The blood is separated it into its components by centrifugation (spinning), the white cells are removed, and the rest of the blood (red cells, plasma and platelets) is returned to the body, either through the same needle or through another needle in the other arm. - Blood draw: Blood may be drawn through a needle in an arm vein (venipuncture). No more than 450 milliliters (15 ounces) of blood will be collected over a 6-week period from adults, and no more than 7 ml (1 1/2 teaspoons) per kilogram (2.2 pounds) of body weight in children over the same time period. - Lymph node biopsies: Lymph node biopsies will be done only if required for diagnostic purposes. Some of the biopsy tissue may be kept for research. Up to two lymph nodes may be removed during each procedure. For the procedure, a painkiller is injected into and beneath the skin in the biopsy area, and the node is removed surgically. The incision is closed using dissolving sutures (stitches) that do not require removal. The biopsy takes about 30 minutes. Patients will be hospitalized at least overnight for observation. - Intestinal biopsies: Endoscopy and gastrointestinal biopsy will be done only if there is evidence of malabsorption. Some of the biopsy tissue may be kept for research. Patients are pre-medicated to allay anxiety, but are fully conscious during the procedure. A flexible tube is inserted into the stomach or small intestine through the mouth. The tube allows the doctor to see the intestinal mucosa and to project the image onto a TV screen. At various places in the mucosal surface, small pieces of tissue are plucked out using a small space at the tip of the endoscope. The procedure takes 30 to 60 minutes. Some of the blood collected may be used for genetic tests. Some blood and tissue samples may be stored for future research labeled with a code, such as a number, that only the study team can link to the patient. Participating family members will provide a medical history, and their pulse, blood pressure and temperature will be taken. They will have 10 to 120 ml (1/3 to 4 ounces) of blood drawn from a vein in the arm. Blood samples may be taken on repeated occasions as long as the relative remains in the study. The blood will be used for research that may involve development of diagnostic tests for CVI, evaluation of the structure and function of normal blood cells for comparison with those of patients with CVI, and studies to try to determine possible genetic factors involved in susceptibility to CVI. ...