Question: How many people are affected by Blau syndrome ?
Answer: Although Blau syndrome appears to be uncommon, its prevalence is unknown.
Source: GHR

Question: What are the genetic changes related to Blau syndrome ?
Answer: 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. The NOD2 gene mutations that cause Blau syndrome result in a NOD2 protein that is overactive, which can trigger an abnormal inflammatory reaction. However, it is unclear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin that is characteristic of Blau syndrome.
Source: GHR

Question: What are the treatments for Blau syndrome ?
Answer: These resources address the diagnosis or management of Blau syndrome: - Genetic Testing Registry: Blau syndrome - Genetic Testing Registry: Sarcoidosis, early-onset - Merck Manual Consumer Version: Overview of Dermatitis - Merck Manual Consumer Version: Uveitis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR