Autoinflammatory Granulomatous Disease: Blau Syndrome

  • Carlos D. RoseEmail author
  • Carine H. Wouters


Blau syndrome (BS) is a monogenic granulomatous polyarthritis associated with rather severe uveitis resulting from mutations at or near the nucleotide-binding oligomerization domain (NOD) domain of NOD2. It encompasses early-onset sarcoidosis (EOS), a form of granulomatous arthritis affecting children before the age of 5 years and known since the mid-1970s, and a familial form described separately by Blau and Jabs in 1985. Once the mutation was identified it was clear that BS and EOS were the same disease and both are now covered under the eponym Blau syndrome. This chapter covers the spectrum of clinical manifestations of and diagnostic strategies for the investigation of patients with Blau syndrome, provides an update on pathogenesis and highlights several management recommendations. These developed as knowledge of the natural history improved with the creation of multicenter cross-sectional studies and an ongoing multicenter cohort study.


NOD2 Sarcoidosis Blau syndrome Granulomatous diseases 



Angiotensin converting enzyme


Blau Syndrome


Caspase recruitment domain


Crohn disease


C-reactive protein


Early-onset sarcoidosis




Juvenile idiopathic arthritis




Mitogen-activated protein


Muramyl dipeptide


Multinucleated giant cell


Nuclear factor-ĸB


Nucleotide-binding oligomerization domain 2/caspase activation recruitment domain 15


Peripheral blood mononuclear cells


Proximal interphalangeal


Receptor-interacting protein kinase 2


Transforming growth factor β-activated kinase




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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.duPont Children’s Hospital, Thomas Jefferson UniversityPhiladelphiaUSA
  2. 2.Department of Microbiology and ImmunologyKU Leuven-University of LeuvenLeuvenBelgium
  3. 3.Pediatric RheumatologyUniversity Hospitals LeuvenLeuvenBelgium

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