Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Blau Syndrome

  • Carine H. Wouters
  • Carlos D. RoseEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_114-1

Synonyms

Definition

Blau syndrome is a monogenic granulomatous autoinflammatory disease presenting with polyarthritis, rash, panuveitis and systemic manifestations resulting from gain-of-function point mutations at or near the NOD domain of the NOD2 gene.

Introduction

Blau syndrome (BS) is an inflammatory disorder considered part of the spectrum of pediatric sarcoidosis and as such primarily characterized by the presence of non-caseating epithelioid giant cell granulomas in a variety of tissues and organ systems. The clinical phenotype associated with an autosomal dominant inheritance pattern was described in 1985 (Blau 1985). In 2001 a mutation in the nucleotide-binding oligomerization domain 2/caspase activation recruitment domain 15 (NOD2/CARD15) was found in four patients with Blau syndrome and with this discovery the first monogenic autoinflammatory granulomatous disease was described (Miceli-Richard et al. 2001). Blau...

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References

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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Department of Microbiology and ImmunologyKU Leuven – University of LeuvenLeuvenBelgium
  2. 2.Pediatric RheumatologyUniversity Hospitals LeuvenLeuvenBelgium
  3. 3.duPont Children’s HospitalThomas Jefferson UniversityPhiladelphiaUSA

Section editors and affiliations

  • Raphaela T. Goldbach-Mansky
    • 1
  1. 1.NIAID, Translational Autoinflammatory Disease StudiesNational Institutes of Health Clinical CenterBethesdaUSA