Blau Syndrome Overview
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.
Mercy Clinic Springfield Communities
Yaqoob Ali is a Hematologist Oncology specialist and a Hematologist in Springfield, Missouri. Dr. Ali and is rated as an Advanced provider by MediFind in the treatment of Blau Syndrome. His top areas of expertise are Iron Deficiency Anemia, Monoclonal Gammopathy of Undetermined Significance (MGUS), Small Cell Lung Cancer (SCLC), Lung Adenocarcinoma, and Bone Marrow Aspiration. Dr. Ali is currently accepting new patients.
Pinnacle Radiology PLLC
Jon Shoppach is a Radiologist in Rogers, Arkansas. Dr. Shoppach and is rated as an Advanced provider by MediFind in the treatment of Blau Syndrome. His top areas of expertise are Ascites, Chronic Granulomatous Disease, Blau Syndrome, and Pleurisy. Dr. Shoppach is currently accepting new patients.
Bates County Memorial Hospital
James Miller is a Family Medicine provider in Rich Hill, Missouri. Dr. Miller and is rated as an Advanced provider by MediFind in the treatment of Blau Syndrome. His top areas of expertise are Low Potassium Level, Lung Metastases, Gitelman Syndrome, and Hypertension. Dr. Miller is currently accepting new patients.
Published Date: January 01, 2020
Published By: National Institutes of Health