What are autoinflammatory diseases? Autoinflammatory diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. The problem causes your immune cells to attack your body by mistake. This can cause swelling that produces fever, rash, joint swelling, or serious buildup of a blood protein in your organs.
What is osteopetrosis? Osteopetrosis is a rare disorder that causes bones to grow abnormally and become too dense. When this happens, bones can break easily. In addition, bones may be misshapen and large, causing other problems in the body, such as problems with: Seeing and hearing. Fighting infection. Controlling bleeding. Osteopetrosis is a genetic disease that a child inherits from their parents. The disorder may be mild to severe, and symptoms may show up early after birth or later in adulthood.
What is Behçet’s disease? Behçet’s disease can affect different parts of your body. If you have the disease, you probably have sores in the mouth or on the genitals (sex organs). More serious symptoms can include swelling, heat, redness, and pain in the eyes and other parts of the body. The disease is named after the doctor who first described it, Dr. Hulusi Behçet.
What is fibrous dysplasia? Fibrous dysplasia happens when abnormal fibrous (scar-like) tissue replaces healthy bone. The fibrous tissue weakens the bone over time, which can lead to: Broken bones. Bones that are misshapen (bowed or crooked). The disease can affect any bone in the body. Some people have no symptoms or only a few symptoms. Other people may have more symptoms. Although there is no cure for fibrous dysplasia, treatments may help to lessen pain, and physical therapy may help strengthen muscle and improve movement.
Same Immune Regulatory Protein Found to Play Instrumental Role in Two Hereditary Autoinflammatory Diseases
Research funded in part by the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) has revealed a new role for A20, a protein that regulates a key immune response pathway, in certain early-onset autoinflammatory diseases. The results suggest that targeting this pathway could be an effective strategy for treating these diseases, and possibly related conditions, as well.