Abstract
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.
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Abbreviations
- ACE:
-
Angiotensin converting enzyme
- BS:
-
Blau Syndrome
- CARD:
-
Caspase recruitment domain
- CD:
-
Crohn disease
- CRP:
-
C-reactive protein
- EOS:
-
Early-onset sarcoidosis
- IL:
-
Interleukin
- JIA:
-
Juvenile idiopathic arthritis
- LRRs:
-
Leucine-rich-repeats
- MAP:
-
Mitogen-activated protein
- MDP:
-
Muramyl dipeptide
- MGC:
-
Multinucleated giant cell
- NF-ĸB:
-
Nuclear factor-ĸB
- NOD2/CARD15:
-
Nucleotide-binding oligomerization domain 2/caspase activation recruitment domain 15
- PBMC:
-
Peripheral blood mononuclear cells
- PIP:
-
Proximal interphalangeal
- RIP2:
-
Receptor-interacting protein kinase 2
- TAK:
-
Transforming growth factor β-activated kinase
- TB:
-
Tuberculosis
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Rose, C.D., Wouters, C.H. (2019). Autoinflammatory Granulomatous Disease: Blau Syndrome. In: Hashkes, P., Laxer, R., Simon, A. (eds) Textbook of Autoinflammation. Springer, Cham. https://doi.org/10.1007/978-3-319-98605-0_20
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