Blau syndrome

Definition:

Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional features of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years.

References:

[1]. C Miceli-Richard, et al. CARD15 mutations in Blau syndrome. Nat Genet. 2001 Sep;29(1):19-20. [Content Brief]

[2]. E B Blau, et al. Familial granulomatous arthritis, iritis, and rash. J Pediatr. 1985 Nov;107(5):689-93. [Content Brief]

[3]. Leonardo Punzi, et al. Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. Autoimmun Rev. 2009 Jan;8(3):228-32. [Content Brief]

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