What is Blau syndrome?

Updated: Jul 30, 2018
  • Author: Joseph F Merola, MD, MMSc; Chief Editor: Dirk M Elston, MD  more...
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Answer

Answer

Blau syndrome and early-onset sarcoidosis represent familial and sporadic forms of pediatric granulomatous autoinflammatory disease caused by mutations in the NOD2 gene. Clinical onset is usually early in life, with noncaseating granulomas affecting the skin, joints, and uveal tract. [1, 2]


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