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Blau Syndrome

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The Uveitis Atlas

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Abstract

Blau syndrome is a rare inherited autoinflammatory granulomatous disease that presents in early childhood with skin rash, arthritis, and uveitis. Blau syndrome is characterized by the presence of NOD2 gene mutations and noncaseating granulomas in the affected organ systems, including ocular tissues. Patients with uveitis may have protean manifestations with involvement of both anterior and posterior segment of the eye. In the index chapter, systemic and ocular features among NOD2-positive confirmed cases of Blau syndrome are described.

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Suggested Reading

  • Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV. Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). Acta Ophthalmol. 2015;93(3):253–7.

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  • Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011;23(5):411–8.

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  • Rosé CD, Pans S, Casteels I, Anton J, et al. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015;54(6):1008–16.

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  • Rosenbaum JT, Planck SR, Davey MP, Iwanaga Y, Kurz DE, Martin TM. With a mere nod, uveitis enters a new era. Am J Ophthalmol. 2003;136(4):729–32.

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Author information

Authors and Affiliations

  1. Spencer Center for Vision Research, Byers Eye Institute at Stanford University, Palo Alto, CA, USA

    Quan Dong Nguyen

  2. Department of Pediatric Rheumatology, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Carlos D. Rosé

  3. Department of Pediatric Rheumatology, Catholic University of Leuven (KU Leuven), Leuven, Belgium

    Carine H. Wouters

  4. University Hospitals Bristol NHS Trust, Bristol, UK

    Catherine Guly

  5. Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

    Aniruddha Agarwal

Authors
  1. Aniruddha Agarwal
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  2. Carlos D. Rosé
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  3. Carine H. Wouters
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  4. Catherine Guly
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  5. Quan Dong Nguyen
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Corresponding author

Correspondence to Quan Dong Nguyen .

Editor information

Editors and Affiliations

  1. Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

    Vishali Gupta

  2. Spencer Center for Vision Research, Byers Eye Institute at Stanford University, Palo Alto, CA, USA

    Quan Dong Nguyen

  3. Department of Ophthalmology, Pitié-Salpêtrière University Hospital Sorbonne University, Paris, France

    Phuc LeHoang

  4. Advanced Eye Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

    Aniruddha Agarwal

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Agarwal, A., Rosé, C.D., Wouters, C.H., Guly, C., Nguyen, Q.D. (2020). Blau Syndrome. In: Gupta, V., Nguyen, Q., LeHoang, P., Agarwal, A. (eds) The Uveitis Atlas. Springer, New Delhi. https://doi.org/10.1007/978-81-322-2410-5_129

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  • DOI: https://doi.org/10.1007/978-81-322-2410-5_129

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  • Publisher Name: Springer, New Delhi

  • Print ISBN: 978-81-322-2409-9

  • Online ISBN: 978-81-322-2410-5

  • eBook Packages: MedicineReference Module Medicine

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