Learn About Blau Syndrome

What is the definition of 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.

What are the causes of Blau Syndrome?

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.

How prevalent is Blau Syndrome?

Blau syndrome is a very rare disorder. It is estimated to affect fewer than 1 in 1 million children worldwide.

Is Blau Syndrome an inherited disorder?

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.

Who are the top Blau Syndrome Local Doctors?
Hematology Oncology | Hematology | Oncology
Hematology Oncology | Hematology | Oncology

Mercy Clinic Springfield Communities

3231 S National Ave, 130 Mc Imaging Services Sgc, 
Springfield, MO 
 (3.8 mi)
Languages Spoken:
English, Hindi, Punjabi, Urdu
Accepting New Patients
Offers Telehealth

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

2710 S Rife Medical Ln, 
Rogers, AR 
 (79.3 mi)
Languages Spoken:
English
Accepting New Patients

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.

 
 
 
 
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Family Medicine
Family Medicine

Bates County Memorial Hospital

225 N 14th St, Family Care Clinic Rich Hill, 
Rich Hill, MO 
 (84.4 mi)
Languages Spoken:
English
Accepting New Patients

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.

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Who are the sources who wrote this article ?

Published Date: January 01, 2020
Published By: National Institutes of Health