Learn About Blau Syndrome
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.
Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair.
Blau syndrome is a very rare disorder. It is estimated to affect fewer than 1 in 1 million children worldwide.
Blau syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals have one parent with the condition.
Leonardo Punzi practices in Padova, Italy. Mr. Punzi is rated as an Elite expert by MediFind in the treatment of Blau Syndrome. His top areas of expertise are Arthritis, Blau Syndrome, Gout, Calcium Pyrophosphate Arthritis, and Knee Replacement.
Naotomo Kambe practices in Kyoto, Japan. Kambe is rated as an Elite expert by MediFind in the treatment of Blau Syndrome. Their top areas of expertise are Blau Syndrome, Schnitzler Syndrome, Familial Cold Autoinflammatory Syndrome, and Neonatal Onset Multisystem Inflammatory Disease.
Paolo Sfriso practices in Padova, Italy. Mr. Sfriso is rated as an Elite expert by MediFind in the treatment of Blau Syndrome. His top areas of expertise are Adult Still's Disease, Blau Syndrome, Rheumatoid Arthritis (RA), and Arthritis.
Summary: This study aims to understand the causes and progression of Common Variable Immunodeficiency (CVID) and related inborn errors of immunity (IEI). These are conditions where the immune system does not function properly, leading to frequent infections and other complications such as gastrointestinal inflammation, lung and liver disease, autoimmune conditions, and an increased risk of certain cancers....
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: January 01, 2020
Published By: National Institutes of Health