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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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Authors and Affiliations

  1. Department of Ophthalmology, Stanley M. Truhlsen Eye Institute, University of Nebraska Medical Center, 985540 Nebraska Medical Center, Omaha, NE, 68198-5540, 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. Department of Ophthalmology, Advanced Eye Centre, Post Graduate 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 Center, PGIMER, Chandigarh, India

    Vishali Gupta

  2. Ophthalmology, University of Nebraska Medical Center, Omaha, Nebraska, USA

    Quan Dong Nguyen

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

    Phuc LeHoang

  4. University of Lausanne, Lausanne, Switzerland

    Carl P Herbort Jr.

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© 2016 Springer India

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Agarwal, A., Rosé, C.D., Wouters, C.H., Guly, C., Nguyen, Q.D. (2016). Blau Syndrome. In: Gupta, V., Nguyen, Q., LeHoang, P., Herbort Jr., C. (eds) The Uveitis Atlas. Springer, New Delhi. https://doi.org/10.1007/978-81-322-2506-5_129-1

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  • DOI: https://doi.org/10.1007/978-81-322-2506-5_129-1

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  • Publisher Name: Springer, New Delhi

  • Online ISBN: 978-81-322-2506-5

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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