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Distinguishing Blau Syndrome from Systemic Sarcoidosis.

Publication ,  Journal Article
Kaufman, KP; Becker, ML
Published in: Curr Allergy Asthma Rep
February 9, 2021

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. 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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Published In

Curr Allergy Asthma Rep

DOI

EISSN

1534-6315

Publication Date

February 9, 2021

Volume

21

Issue

2

Start / End Page

10

Location

United States

Related Subject Headings

  • Uveitis
  • Synovitis
  • Sarcoidosis
  • Prognosis
  • Nod2 Signaling Adaptor Protein
  • Mutation
  • Humans
  • Granuloma
  • Diagnosis, Differential
  • Arthritis
 

Citation

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Kaufman, K. P., & Becker, M. L. (2021). Distinguishing Blau Syndrome from Systemic Sarcoidosis. Curr Allergy Asthma Rep, 21(2), 10. https://doi.org/10.1007/s11882-021-00991-3
Kaufman, Katherine P., and Mara L. Becker. “Distinguishing Blau Syndrome from Systemic Sarcoidosis.Curr Allergy Asthma Rep 21, no. 2 (February 9, 2021): 10. https://doi.org/10.1007/s11882-021-00991-3.
Kaufman KP, Becker ML. Distinguishing Blau Syndrome from Systemic Sarcoidosis. Curr Allergy Asthma Rep. 2021 Feb 9;21(2):10.
Kaufman, Katherine P., and Mara L. Becker. “Distinguishing Blau Syndrome from Systemic Sarcoidosis.Curr Allergy Asthma Rep, vol. 21, no. 2, Feb. 2021, p. 10. Pubmed, doi:10.1007/s11882-021-00991-3.
Kaufman KP, Becker ML. Distinguishing Blau Syndrome from Systemic Sarcoidosis. Curr Allergy Asthma Rep. 2021 Feb 9;21(2):10.
Journal cover image

Published In

Curr Allergy Asthma Rep

DOI

EISSN

1534-6315

Publication Date

February 9, 2021

Volume

21

Issue

2

Start / End Page

10

Location

United States

Related Subject Headings

  • Uveitis
  • Synovitis
  • Sarcoidosis
  • Prognosis
  • Nod2 Signaling Adaptor Protein
  • Mutation
  • Humans
  • Granuloma
  • Diagnosis, Differential
  • Arthritis