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Blau Syndrome

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Auto-Inflammatory Syndromes

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Abstract

Blau syndrome is a monogenic inflammatory disease that classically involves the triad of arthritis, uveitis, and dermatitis. This syndrome is the familial form of early-onset sarcoidosis, and the two entities have some shared mutations in the NOD2 gene. Blau syndrome was first described in 1985 and is characterized predominantly by granulomas in the affected areas. Management remains a challenge, as Blau syndrome is rare and evidence is lacking. Here, we describe in greater detail the clinical features, pathophysiology, diagnosis, management, and prognosis of Blau syndrome.

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Author information

Authors and Affiliations

  1. Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Rebecca Trachtman

  2. Pediatric Rheumatology, Hospital for Special Surgery/Weill Cornell Medicine, New York, NY, USA

    Karen B. Onel

Authors
  1. Rebecca Trachtman
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  2. Karen B. Onel
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Correspondence to Karen B. Onel .

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Editors and Affiliations

  1. New York University School of Medicine, New York, NY, USA

    Petros Efthimiou

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Trachtman, R., Onel, K.B. (2019). Blau Syndrome. In: Efthimiou, P. (eds) Auto-Inflammatory Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-96929-9_5

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  • DOI: https://doi.org/10.1007/978-3-319-96929-9_5

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-96928-2

  • Online ISBN: 978-3-319-96929-9

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