Sarcoidosis is a poorly understood syndromic disease: various symptoms occur, diverse organs are affected, and multiple tests are used to support the diagnosis.  It remains difficult to isolate causes, triggers, and risk factors that are reproducibly associated with disease. Unfortunately, the same broad approach is also used in treating the disease, with steroids and immune suppression medications being the most common therapies prescribed. These medications have significant toxicities and risks, but are not reliably effective in preventing progression of disease. The lack of a clear and distinct target that explains why the disease develops or why it progresses complicates the development of new therapies.

This study seeks the evaluation of patients with sarcoidosis for any genetic alterations that could result in immune system defects that would be helpful in providing a better understanding of what causes disease in some patients with this diagnosis. For this study, the National Institutes of Health Clinical Center (NIHCC) and National Institute of Allergy and Infectious Diseases (NIAID) plan to recruit people who are a member of a family with more than one person who has been diagnosed with sarcoidosis.  People with severe/high-risk disease (e.g., early age of onset, rapid progression of disease, multiple organ involvement) and patients with uncomplicated sarcoidosis are also included. In addition to genetic testing, this study will also screen patients for the presence of antibodies against important proteins that regulate the immune response (anti-cytokine autoantibodies) to explore unique pathways that may be related to the development of sarcoidosis. Learn more.