type i interferon signature does not correlate with disease activity in blau syndrome

Original title: “Type I interferon signature does not correlate with disease activity in Blau syndrome.”

The autoinflammatory condition is associated with mutations in the NOD2 gene and usually affects children younger than 4 years. Fever, large-vessel granulomatous vasculitis, malignant hypertension, and granulomatous inflammation of the kidneys, liver, and lungs are some other clinical manifestations of the disease.2 Besides classical clinical features, noncaseating epithelioid cell and giant cell granulomas in the affected tissues are the hallmark of the disease. ... Treating Blau syndrome is a challenging process. Collaborative efforts among dermatologists, pediatricians, and ophthalmologists are needed for optimum disease management of this multisystem inflammatory condition.3 Although Blau syndrome cannot be cured completely, several treatment strategies can help relieve symptoms associated with the condition. This protein is mainly expressed in macrophages, monocytes, and dendritic cells, playing an important role in innate immune defense against pathogens.4 Mutations in the NOD2 gene cause hyperactivation of nuclear factor–κB, resulting in an autoinflammatory disease with an exuberant response.2 The condition can be diagnosed through family history, clinical features, and noncaseating granulomas. Because mutations in a single gene are responsible for causing the disease, Blau syndrome is usually treated as a monogenic autoinflammatory disease. Treatment mainly focuses on preventing progressive ocular symptoms and resulting vision loss, as well as avoiding joint deformation. Arvesen KB, Herlin T, Larsen DA, et al. Diagnosis and treatment of Blau syndrome/early-onset sarcoidosis, an autoinflammatory granulomatous disease, in an infant. Acta Derm Venereol. 2017;97(1):126-127.

Original title: “Blau Syndrome: A Look Into a Rare Disease Requiring Collaborative Treatment | Dermatology Times”