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.
Jorge Abrego is an Internal Medicine doctor in Easton, Maryland. Dr. Abrego has been practicing medicine for over 35 years and is rated as a Distinguished doctor by MediFind in the treatment of Blau Syndrome. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Familial Hypertension, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Anemia. Dr. Abrego is currently accepting new patients.
Ravi Iyer is an Internal Medicine doctor in Herndon, Virginia. Dr. Iyer has been practicing medicine for over 39 years and is rated as an Advanced doctor by MediFind in the treatment of Blau Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Chronic Granulomatous Disease, Blau Syndrome, Dementia, and Flu. Dr. Iyer is currently accepting new patients.
Robert Basarab is a Radiologist and a Nuclear Medicine doctor in York, Pennsylvania. Dr. Basarab has been practicing medicine for over 45 years and is rated as an Experienced doctor by MediFind in the treatment of Blau Syndrome. His top areas of expertise are Chronic Granulomatous Disease, Blau Syndrome, Bronchogenic Cyst, and Lung Nodules.
Published Date: January 01, 2020Published By: National Institutes of Health