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Autoinflammatory Granulomatous Disease: Blau Syndrome

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Textbook of Autoinflammation

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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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Author information

Authors and Affiliations

  1. duPont Children’s Hospital, Thomas Jefferson University, Philadelphia, PA, USA

    Carlos D. Rose

  2. Department of Microbiology and Immunology, KU Leuven-University of Leuven, Leuven, Belgium

    Carine H. Wouters

  3. Pediatric Rheumatology, University Hospitals Leuven, Leuven, Belgium

    Carine H. Wouters

Authors
  1. Carlos D. Rose
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  2. Carine H. Wouters
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Corresponding author

Correspondence to Carlos D. Rose .

Editor information

Editors and Affiliations

  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

  3. Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands

    Anna Simon

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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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  • DOI: https://doi.org/10.1007/978-3-319-98605-0_20

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  • Online ISBN: 978-3-319-98605-0

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