View clinical trials related to Primary Immune Deficiencies.
Filter by:Some Primary Immune Deficiencies can be associated with an inflammatory bowel disease, mimicking Crohn disease : the Chronic Granulomatous Disease (CGD), the XIAP deficiency, and the TTC7A deficiency. This inflammatory bowel disease is frequent but inconstant, raising questions about other factors contributing to the disease. The aim of our study is to analyze, describe and compare the gut microbiota of patients with those primary immune deficiency, with or without intestinal disease. The investigators can expect, in the long term, to compare on a same patient, the gut microbiota evolution, and to assess the role of gut microbiota modifications on the onset of an inflammatory bowel disease.
The immune system is an intricate system comprised of specialized cells, proteins, tissues and organs. Proper functioning is critical to the body's ability to defend itself against harmful pathogens. Immunological disorders and deficiencies are defects in the immune system that lead to abnormal immune responses. Abnormal immune responses could be derived from immune deficiencies, dysregulations or hypersensitivities. The overall goal of this research study is to identify the mechanisms of primary immune deficiencies and immune disorders at the genetic, cellular and molecular level, using novel analytic techniques to be performed on immune cells derived from blood samples. The knowledge gained from the aims of this study could lead to better diagnostics and identify novel targets for therapeutic interventions.
Background: - Researchers are interested in studying disorders that make individuals more susceptible to fungal infections, specifically infections with the Candida yeast. These disorders are often related to problems with the immune system and may have genetic factors, which suggests that researchers should study not only the individual with the disorder, but also his or her first- and second-degree relatives (such as parents, siblings, children, and first cousins). To provide material for future research, individuals with immune disorders and their first- and second-degree relatives will be asked to provide blood and other samples for testing and comparison with samples taken from healthy volunteers with no history of immune disorders. Objectives: - To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections. Eligibility: - Individuals of any age who have abnormal immune function characterized by recurrent or unusual fungal infections, recurrent or chronic inflammation, or other types of immune dysfunction. - First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins). - Healthy volunteers at least 18 years of age (for comparison purposes). Design: - Participants will provide blood samples and buccal (cells from the inside of the mouth near the cheek) samples. - Participants with immune disorders will also be asked to provide urine samples, saliva or mucosal samples, or skin tissue biopsies, and may also have imaging studies (such as x-rays) to collect information for research. - Samples may be collected at the National Institutes of Health or at other clinical locations for the samples to the sent to the National Institutes of Health. - No treatment will be provided as part of this protocol.