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Distinguishing Blau Syndrome from Systemic Sarcoidosis

  • Autoimmunity (TK Tarrant, Section Editor)
  • Published:
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Abstract

Purpose of Review

The purpose of this review is to provide a framework to distinguish Blau syndrome/Early Onset Sarcoidosis and Sarcoidosis clinically. We also discuss relevant differences in genetics, pathogenesis, and management of these diseases.

Recent Findings

Blau syndrome and Sarcoidosis share the characteristic histologic finding of noncaseating granulomas as well as some similar clinical characteristics; nevertheless, they are distinct entities with important differences between them. Blau syndrome and Early Onset Sarcoidosis are due to one of numerous possible gain-of-function mutations in NOD2, commonly presenting before age 5 with a triad of skin rash, arthritis, and uveitis. However, as more cases are reported, expanded clinical manifestations have been described. In systemic Sarcoidosis, there are numerous susceptibility genes that have been identified, and disease is thought to result from an environmental exposure in a genetically susceptible host. It most often presents with constitutional symptoms and pulmonary involvement and typically affects adolescents and adults.

Summary

This paper reviews the similarities and differences between Blau syndrome and Sarcoidosis. We also discuss the importance of distinguishing between them, particularly with regard to prognosis and outcomes.

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Article 04 July 2019

Johan Grunewald, Jan C. Grutters, … Joachim Müller-Quernheim

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Funding

MLB receives support from the National Institutes of Health (5R01HD089928–03, 5U24TR001608–4, HHSN275201800003I, 3U24TR001608-04S1), FDA Arthritis Advisory Committee, and the Childhood Arthritis and Rheumatology Research Alliance.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Rheumatology and Nephrology, Duke University Medical Center, Durham, NC, USA

    Katherine P. Kaufman & Mara L. Becker

  2. CarolinaEast Internal Medicine, Pollocksville, NC, USA

    Katherine P. Kaufman

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  1. Katherine P. Kaufman
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  2. Mara L. Becker
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Correspondence to Katherine P. Kaufman.

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Kaufman, K.P., Becker, M.L. Distinguishing Blau Syndrome from Systemic Sarcoidosis. Curr Allergy Asthma Rep 21, 10 (2021). https://doi.org/10.1007/s11882-021-00991-3

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