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 osteogenesis imperfecta? Osteogenesis imperfecta (OI) is a disease that causes your bones to break (fracture) easily. OI is also called brittle bone disease. Your symptoms may be mild or severe, depending on the type of OI you have.
What is ichthyosis? Ichthyosis is a group of skin disorders. It leads to dry, itchy skin that appears scaly, rough, and red. The symptoms can range from mild to severe. Ichthyosis can affect only the skin, but sometimes the disease can affect internal organs, too.
What is Sjögren’s syndrome? Sjögren’s syndrome is a chronic (long-lasting) disorder that happens when the immune system attacks the glands that make moisture in the eyes, mouth, and other parts of the body. The main symptoms are dry eyes and mouth, but the disorder may affect other parts of the body. Many people with Sjogren’s syndrome say they feel tired often (fatigue). They also may have joint and muscle pain. In addition, the disease can damage the lungs, kidneys, and nervous system.
What is Paget’s disease? Paget’s disease of bone is a chronic (long-lasting) disorder that causes bones to grow larger and become weaker than normal. Usually only one or a few bones have the disease. Many people with Paget’s disease do not have symptoms. However, the bone changes can cause: Bone pain. Misshapen bones. Broken bones (fractures). Problems in the joints near the bones with the disease. With treatment, many people can: Manage their symptoms. Improve pain. Control the effects of the disease.
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.
¿Qué es la osteogénesis imperfecta? La osteogénesis imperfecta es una enfermedad que hace que los huesos se rompan (se fracturen) fácilmente. También se le conoce como la enfermedad de los huesos de cristal. Sus síntomas pueden ser leves o graves, dependiendo del tipo de osteogénesis imperfecta que tenga.