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 scoliosis? Scoliosis is a sideways curve of the spine. Children and teens with scoliosis have an abnormal S-shaped or C-shaped curve of the spine. The curve can happen on either side of the spine and in different places in the spine. With treatment, observation, and follow-up with the doctor, most children and teens with scoliosis have normal, active lives.
What is bursitis? Bursitis is a common condition that causes swelling and pain around muscles and bones. Bursitis is the swelling of the bursa, a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin.
What is pachyonychia congenita? Pachyonychia congenita (PC) is a very rare genetic disorder that affects the skin and nails. Most people have thickened nails and calluses on the bottom of the feet. Painful calluses on the soles can make walking difficult. Because of the pain, some people rely on a cane, crutches, or a wheelchair to help with walking.
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.