Blau Syndrome

Rebecca Trachtman, Karen B. Onel

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Blau syndrome is a monogenic inflammatory disease that classically involves the triad of arthritis, uveitis, and dermatitis. This syndrome is the familial form of early-onset sarcoidosis, and the two entities have some shared mutations in the NOD2 gene. Blau syndrome was first described in 1985 and is characterized predominantly by granulomas in the affected areas. Management remains a challenge, as Blau syndrome is rare and evidence is lacking. Here, we describe in greater detail the clinical features, pathophysiology, diagnosis, management, and prognosis of Blau syndrome.

Original languageEnglish
Title of host publicationAuto-Inflammatory Syndromes
Subtitle of host publicationPathophysiology, Diagnosis, and Management
PublisherSpringer International Publishing
Number of pages7
ISBN (Electronic)9783319969299
ISBN (Print)9783319969282
StatePublished - 1 Jan 2019


  • Arthritis
  • Blau
  • CARD15
  • Granuloma
  • Jabs
  • NOD2
  • Sarcoidosis
  • Uveitis


Dive into the research topics of 'Blau Syndrome'. Together they form a unique fingerprint.

Cite this