Diseases & Conditions
Research to understand and treat some of the world's most problematic diseases
More than 80 diseases occur as a result of the immune system attacking the body’s own organs, tissues, and cells. Some of the more common autoimmune diseases include type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease.
Although the causes of many autoimmune diseases remain unknown, a person’s genes in combination with infections and other environmental exposures are likely to play a significant role in disease development. Treatments are available for many autoimmune diseases, but cures have yet to be discovered.
Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of the immune system first described by NIH scientists in the mid-1990s that affects both children and adults. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen and can lead to enlargement of these organs. ALPS can also cause anemia (low level of red blood cells), thrombocytopenia (low level of platelets), and neutropenia (low level of neutrophils, the most common type of white blood cell in humans).
Primary immune deficiency diseases (PIDDs) are rare, genetic disorders that impair the immune system. Without a functional immune response, people with PIDDs may be subject to chronic, debilitating infections, such as Epstein-Barr virus (EBV), which can increase the risk of developing cancer. Some PIDDs can be fatal. PIDDs may be diagnosed in infancy, childhood, or adulthood, depending on disease severity.
STAT3 dominant-negative disease (STAT3DN)—also known as autosomal dominant hyper-IgE syndrome (AD-HIES) or Job’s Syndrome—results from mutations in the gene that encodes a signaling protein called STAT3. People with this disease tend to have very high levels of an antibody called immunoglobulin E (IgE), recurrent infections of the skin and lungs, recurrent bone fractures, unusually flexible joints, and inflamed skin.