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Erschienen in: Current Allergy and Asthma Reports 2/2021

01.02.2021 | Autoimmunity (TK Tarrant, Section Editor)

Distinguishing Blau Syndrome from Systemic Sarcoidosis

verfasst von: Katherine P. Kaufman, Mara L. Becker

Erschienen in: Current Allergy and Asthma Reports | Ausgabe 2/2021

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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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Metadaten
Titel
Distinguishing Blau Syndrome from Systemic Sarcoidosis
verfasst von
Katherine P. Kaufman
Mara L. Becker
Publikationsdatum
01.02.2021
Verlag
Springer US
Erschienen in
Current Allergy and Asthma Reports / Ausgabe 2/2021
Print ISSN: 1529-7322
Elektronische ISSN: 1534-6315
DOI
https://doi.org/10.1007/s11882-021-00991-3

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