Blau syndrome with a rare mutation in exon 9 of NOD2 gene

Blau syndrome with a rare mutation in exon 9 of NOD2 gene

Blau syndrome is an autosomal dominant rare disease caused by mutations in NOD2 gene. Less than 200 patients published with Blau Syndrome Worldwide. We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest a...

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Bibliographic Details
Main Authors: Jelena Velickovic, Fatma Silan, Firdevs Dincsoy Bir, Coskun Silan, Burcu Albuz, Ozturk Ozdemir
Format: Article
Language:English
Published: Taylor & Francis Group 2019-11-01
Series:Autoimmunity
Subjects:
autoinflammatory disorders
blau syndrome
ngs panel
nod2 mutations
rare mutation
Online Access:http://dx.doi.org/10.1080/08916934.2019.1671375

Internet

http://dx.doi.org/10.1080/08916934.2019.1671375

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