Blau Syndrome

Rebecca Trachtman; Karen B. Onel

doi:10.1007/978-3-319-96929-9_5

Blau Syndrome

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

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.

Original language	English
Title of host publication	Auto-Inflammatory Syndromes
Subtitle of host publication	Pathophysiology, Diagnosis, and Management
Publisher	Springer International Publishing
Pages	61-67
Number of pages	7
ISBN (Electronic)	9783319969299
ISBN (Print)	9783319969282
DOIs	https://doi.org/10.1007/978-3-319-96929-9_5
State	Published - 1 Jan 2019

Keywords

Arthritis
Blau
CARD15
Granuloma
Jabs
NACHT
NOD2
Sarcoidosis
Uveitis

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10.1007/978-3-319-96929-9_5

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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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Blau Syndrome

Abstract

Keywords

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