Active clinical trials for "Common Variable Immunodeficiency"

This research is being done to construct a survey questionnaire, a quality of life tool, to determine the health, well-being, ability to perform daily activities, and physical, social and emotional functioning in participants with primary immunodeficiency disorders (PIDD). This quality of life (QOL) tool will help physicians understand the effects of PIDD on a person's health. These quality of life surveys are important tools for physicians to measure outcomes for satisfaction and effects of treatment.

The purpose of this study is to analyse the phenotype in a sub-population of adults with severe primary immunodeficiency with lymphoproliferation and neutropenia and to decipher the possible pathways involved, especially under the hypothesis of a CTLA4/LRBA schema

Patients with Common variable immunodeficiency (CVID) have various forms of autoimmune and auto inflammatory disorders. The study will investigate if intervention with Rifaximin modifies the gut microbiota with a subsequent alteration in markers of systemic immune activation and inflammation in patients with CVID. The investigators hypothesize that the gut microbiota of CVID patients, at least partly through interaction with the innate immune system within the intestine, contribute to a low-grade systemic inflammation in these patients, and that an intervention with the non-absorbable antibiotic Rifaximin attenuates systemic inflammation through modulation of the gut microbiota. The study may lead to increased understanding of the interaction between microbiota and the immune system. The study could give new insight into important disease processes in relation to the interaction between the microbiota, the intestine and the systemic compartment, and potentially be the basis of new therapeutic strategies in these patients to prevent and down-regulate the auto-inflammatory and autoimmune complications seen in CVID. The findings could also be of relevance for other disorders where the interaction between microbiota and intestinal and systemic inflammation is involved such as various cardiovascular and metabolic disorders. The investigators hypothesize that the gut microbiota of CVID patients, at least partly through interaction with the innate immune system within the intestine, contribute to a low-grade systemic inflammation in these patients, and that an intervention with the non-absorbable antibiotic Rifaximin attenuates systemic inflammation through modulation of the gut microbiota.

This study will determine whether people with common variable immunodeficiency (CVID) with and without gastrointestinal (GI) symptoms have gut abnormalities (inflammation or loss of function) and changes in immune system cells and chemicals in the blood and gut. People with CVID have decreased levels of serum immunoglobulin IgG and IgA. Patients have sinus, lung and other infections, and many also have stomach and intestinal problems, such as chronic diarrhea, inability to absorb nutrition from food, and intestinal infections caused by bacteria. CVID patients with gastrointestinal symptoms 10 years of age and older may be eligible for this study; CVID patients without gastrointestinal symptoms 18 years of age and older will be enrolled as control subjects. Candidates will be screened with a review of their medical records, a medical history and physical examination, HIV blood test, stool sample, and hydrogen breath test. The breath test measures the amount of hydrogen in the breath after drinking sugar water, showing the digestive effects of bacteria in the upper intestine. Participants will be admitted to the NIH Clinical Center for several days to undergo the following procedures: Medical history and physical examination Blood tests Urine and stool samples 48-hour stool fat collection measures the amount of undigested fat in the stool to determine the ability of the gut to digest and absorb fat in the diet D-Xylose absorption test measures the ability of a sugar compound to travel across the lining of the intestine to determine the ability of the gut to absorb nutrients Upper endoscopy a thin flexible lighted tube is advanced through the mouth to evaluate the esophagus, stomach and beginning of the small intestine Lower endoscopy a thin lighted tube is advanced through the rectum to evaluate the colon Identification of GI abnormalities associated with changes in immune response in CVID patients will help in developing and testing new treatments for this disease.

Background: People who have certain immune system diseases often need a procedure called allo HSCT. This is short for allogeneic hematopoietic stem cell transplant. This might cure people with these diseases. Many people who need allo HSCT need donors who are relatives with similar genes. But the disease may also affect those in the donor pool. This may mean there are fewer options for people with inherited diseases. Researchers want to collect data on how transplant candidates and their donors are found. Objective: To find out how genetic diseases and the ways they are inherited affect the breadth of options for allo HSCT donors. Eligibility: Records from studies that have already been done. These will be for people ages 4 and older who were evaluated for allo HSCT or to be donors. Design: Participants already signed a consent form for their records to be shared. Researchers will study the participant data. Data will be stored in an electronic system. Researchers will use passwords to protect the data.

8 to 22% of patients with common variable immunodeficiency (CVID) will develop Granulomatous Lymphocytic Interstitial Lung Disease (GLILD), which has emerged as a major cause of mortality. Little is known about GLILD in children and young adults. The aim of this study was to describe the clinical, functional, radiological and pathological features of children and young adults diagnosed with GLILD.

This is an observational, case-control study with a single blood draw among two cohorts, patients with antibody deficiency (e.g., CVID) and healthy controls. Samples will be analyzed by mass cytometry (CyTOF) to examine the major signaling pathways of all circulating innate and adaptive immune cell types, as well as whole exome sequencing. The goal is to improve our general understanding of the human immune response to infections and the diagnosis of CVID.

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.