Deficiency of adenosine deaminase 2

This study will analyze DNA from up to 20,000 people, including those with immune disorders and their relatives, to find genetic variants linked to conditions like atopy, autoimmunity, and primary immunodeficiency. Researchers will also study how best to return genetic results to…

This study follows 500 children and adults with rare genetic disorders called type I interferonopathies, which cause severe inflammation and neurological problems. Researchers will track how the disease progresses over time and look for biological markers to improve diagnosis and…

This study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study investigates whether gut bacteria and the chemicals they produce influence inflammation in people with autoinflammatory diseases such as FMF, CAPS, and MKD. Researchers will analyze stool and blood samples from 300 patients to measure gut-derived metabolites and assess…

This study aims to better understand VEXAS syndrome and other autoinflammatory conditions by analyzing participants' DNA from blood, saliva, or skin samples. Researchers hope to discover new genetic variants that cause or contribute to these diseases. The study enrolls people of …

This study is looking at 50 children and adults with rare autoinflammatory diseases—conditions where the immune system causes inflammation without a clear reason. Researchers want to find what leads to a faster diagnosis, what factors are linked to these diseases, and which treat…

This study aims to create a large collection of blood samples and medical information from 800 people with autoimmune or inflammatory skin diseases. Researchers will use these samples to find new biomarkers and better understand what causes these conditions. The goal is to help d…

This study is looking for new genes and biological markers that cause systemic autoinflammatory diseases (SAIDs), a group of rare conditions that cause repeated fevers and inflammation. Researchers will analyze the DNA and blood of 300 patients to find disease-causing mutations a…

This study is not a treatment trial. It aims to collect blood samples from 400 children and their relatives who have rare autoimmune or autoinflammatory diseases (like lupus or juvenile arthritis). Researchers will analyze the samples to find genetic mutations that cause these co…

This study is following 670 adults with vasculitis, a rare blood vessel disease, for up to 5 years. Researchers will collect medical data and blood samples to see how the disease starts, how it is treated, and what long-term problems may arise. No new treatments are being tested—…

This study looks at people with autoinflammatory diseases or AA amyloidosis who have genetic changes that are hard to interpret. Researchers want to understand if these changes actually cause the disease. The goal is to improve diagnosis and knowledge, not to test a new treatment…