Blau syndrome is an autosomal dominant genetic inflammatory disorder that affects the skin, the eyes and the joints. It is caused by a mutation in the NOD2 gene, which is also written CARD15, and it is classified as an inborn error of immunity. Symptoms usually begin before the age of four. The disease shows itself as early onset cutaneous sarcoidosis, granulomatous arthritis and uveitis, which is inflammation inside the eye. The source frames it as a single-gene inflammatory condition rather than an infection, with the skin, eye and joint features appearing together in childhood.
Facts
Classification
Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Blau syndrome (Wikipedia)
Lead section
autosomal dominant genetic inflammatory disorder
Lead section [body-system]
affects the skin, eyes, and joints
View the Source2. MedlinePlus Genetics (U.S. National Library of Medicine): Blau syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
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.
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