What is Blau Syndrome?
Blau Syndrome is a rare, degenerative and life-threatening disease that robs those affected of their vision, mobility and in some cases their life. The condition is caused by mutations in the NOD2 gene, which provides instructions for making a protein involved in the immune system and manifests before the age three. There is no cure for Blau Syndrome and the disease can be diagnosed through a simple blood test.
Uveitis is a common and often severe symptom of Blau Syndrome that can lead to vision loss and other complications that affects 80% of patients.
Usually the earliest sign of Blau Syndrome, granulomatous dermatitis can be found in 90% of patients.
96% of patients have arthritis and tenosynovitis, often beginning in infancy.
Expanded manifestations of the disease can include inflammation in the kidneys, liver, brain, heart, spleen, blood vessels, blood vessels and lymph nodes.