Active clinical trials for "Granulomatous Disease, Chronic"

Background: Atherosclerosis, the arterial plaques or blockages that cause heart disease, develops in many people by the time they are in their mid-20s. The rate of atherosclerosis in patients with immune system disorders has not been well studied, but it may be very different from the general population. Patients with chronic granulomatous disease (CGD) produce less of a group of molecules known as free radicals, which help to fight infection and may play a role in the development of atherosclerosis. Patients with CGD may develop atherosclerosis much more slowly than people without CGD. On the other hand, carrier mothers of children with genetically-linked CGD often have problems with autoimmune problems in addition to a problem with making free radicals. Patients with other immune system disorders also have very different responses to infection, and many of them also have autoimmune-like problems that may change the risk of developing atherosclerosis. Objectives: - To study the prevalence of atherosclerosis in patients with immune system disorders, compared with healthy individuals. Eligibility: - Individuals at least 18 years of age who either have been diagnosed with an immune system disorder or are healthy volunteers. Design: The active part of the study involves one or two visits to the National Institutes of Health Clinical Center for a series of imaging tests and scans. Participants will have the following tests during the active part of the study: (1) CAT scan to obtain images of the chest arteries and measure the amount of calcium in the artery walls. (2) Magnetic resonance imaging scan to obtain images of the coronary and carotid arteries in the chest and neck. (3) Electrocardiogram to provide data on current heart function. (4) Blood samples to provide data on heart, kidney, and immune system function. Participants will be contacted every 2 years in the future for up to 30 years to determine whether they have developed heart disease. Researchers will ask participants to provide contact information for two other people who may likely know how to get in touch with the participant in the future.

The aim of the study is to evaluate the side effects and risks after infusion of retroviral gene corrected autologous CD34+ cells of the peripheral blood of chemotherapy conditioned (busulphan)patients with chronic granulomatous disease (CGD). Also gene corrected and functional active granulocytes in the peripheral blood and the engraftment in the bone marrow of the patients will be monitored an documented.

Background: PIDD stands for primary immune dysregulation. It is a general term that includes many different inherited immune system disorders. The immune system is the part of the body that helps fight disease and infection. People with PIDDs can develop many kinds of health problems. One of these is inflammatory bowel disease (IBD), which causes diarrhea and cramping. Researchers want to learn more about these disorders to develop possible treatments. Objective: To learn more about when and why IBD may develop in some people with PIDDs. Eligibility: People ages 3 and older who have PIDD or IBD. Healthy volunteers in this age group are also needed. Design: Visit 1: Participants will be screened with physical exam, medical history, and blood and urine tests. Visit 2: Participants will: Have more physical exams and blood and urine tests. Answer questions about quality of life and food history. Provide a stool sample. Have nasal and rectal skin swabs. Have saliva collected. Participants will have 1 follow-up visit per year. They will repeat visit 2 procedures. Participants will be contacted by phone or email in between yearly visits. They will be asked about their health. They will complete a quality-of-life questionnaire and send a stool sample that is collected at home. If participants experience a sudden change in symptoms or undergo a new treatment, they may be asked to complete visit 2 procedures. If participants are not able to come to NIH, study data and samples can be collected without an in-person visit. Participants will have a final study visit about 10 years after Visit 1. They will repeat visit 2 procedures.

This study is a longitudinal and cross-sectional evaluation of patients with Chronic Granulomatous Disease (CGD) who received or are receiving hematopoietic cell transplantation (HCT) for their disease under a variety of protocols used by participating institutions compared to a control non-HCT group receiving standard care. Investigators at multiple centers caring for patients with CGD in North America and 3 centers in Europe will participate. Patients with CGD will have been treated according to institutional practice and protocols. Investigators will enroll these patients as subjects in this protocol. This study will investigate which patients benefit most from HCT, and what types of transplants are optimal for patients with CGD, in the context of overall outcomes in CGD patients with and without transplant.

Background: People who get chronic illnesses as children are living longer. When they turn 18, they switch from pediatric care to adult care. This can be a difficult change. Chronic Granulomatous Disease (CGD) is an inherited disease. It causes long-term, repeated infections. People with CGD are usually diagnosed when they are very young children. Researchers want to find out more about how young people with CGD handle the change to adult care. What they learn may make this easier for people with CGD in the future. Objective: - To identify what helped or hurt young adults with CGD as they went from pediatric to adult care. Eligibility: - Adults with CGD who were 18 24 years old between January 2011 and February 2014. Design: Participants will already be enrolled in NIH studies. Eligible people will get materials in the mail. They will get a letter with study information, an interview questionnaire, and an information sheet. Researchers will call participants 1 week after the packets are sent. They will talk about the study and find out if the person wants to join. An interview will be completed immediately or scheduled for the future. The interview will take about 45 minutes. The researcher will ask the participant about their disease. They will also ask about travel to NIH, being an outpatient or inpatient there, and legal documents. Researchers may contact the subjects again by phone if they need more information at any point during the study.

Chronic granulomatous disease (CGD) is an inherited immune system abnormality in which bone marrow transplantation (BMT) has been shown to be curative. However the risks of transplantation are high and not all patients with CGD may need to undergo this high risk procedure. This study will determine the long term medical condition and daily functioning of participants with CGD after a transplant and if possible, compare these results to participants who do not undergo a transplant.

CGD is a rare inherited primary immunodeficiency which is caused by the defect in one of the subunits of NADPH oxidase complex.We tend to collect and analyze Chinese CGD patients who are diagnosed in hospitals affiliated to Shanghai Jiao Tong University School of Medicine, including clinical feature, laboratory data and genetic information. we aim to find out clinical, distribution, genetic characteristic of CGD in Chinese population, etc., thus further improving the level of diagnosis and treatment for CGD.