Blau Syndrome: Overview, Diagnosis, and Management in North America
Blau Syndrome (BS) is a rare, inherited autoinflammatory disorder caused by mutations in the NOD2/CARD15 gene, leading to granulomatous inflammation. It is characterized by the classic triad of arthritis, dermatitis, and uveitis. Early recognition is crucial to prevent complications, particularly ocular damage and joint deformities.
In North America, increasing awareness among pediatricians, rheumatologists, and ophthalmologists, combined with the availability of genetic testing, has improved early diagnosis and management of Blau Syndrome.
Etiology and Pathophysiology
Genetic Basis: Gain-of-function mutations in the NOD2 gene lead to abnormal activation of the innate immune system.
Inheritance: Autosomal dominant; a single mutated allele is sufficient to cause disease.
Inflammatory Mechanism: Persistent granulomatous inflammation primarily affects joints, skin, and eyes.


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