A New Mutation in Blau Syndrome

Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mut...

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Main Authors:	Cengiz Zeybek, Gokalp Basbozkurt, Davut Gul, Erkan Demirkaya, Faysal Gok
Format:	Article
Language:	English
Published:	Hindawi Limited 2015-01-01
Series:	Case Reports in Rheumatology
Online Access:	http://dx.doi.org/10.1155/2015/463959

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spelling	doaj-deb9de04dc54469e98455f513d673ffd2020-11-24T21:22:10ZengHindawi LimitedCase Reports in Rheumatology2090-68892090-68972015-01-01201510.1155/2015/463959463959A New Mutation in Blau SyndromeCengiz Zeybek0Gokalp Basbozkurt1Davut Gul2Erkan Demirkaya3Faysal Gok4Pediatric Nephrology Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, TurkeyPediatrics Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, TurkeyMedical Genetics Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, TurkeyPediatric Rheumatology and Nephrology Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, TurkeyPediatric Rheumatology and Nephrology Department, Gulhane Military Medical Academy, Etlik, Kecioren, 06010 Ankara, TurkeyBlau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.http://dx.doi.org/10.1155/2015/463959
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Cengiz Zeybek Gokalp Basbozkurt Davut Gul Erkan Demirkaya Faysal Gok
spellingShingle	Cengiz Zeybek Gokalp Basbozkurt Davut Gul Erkan Demirkaya Faysal Gok A New Mutation in Blau Syndrome Case Reports in Rheumatology
author_facet	Cengiz Zeybek Gokalp Basbozkurt Davut Gul Erkan Demirkaya Faysal Gok
author_sort	Cengiz Zeybek
title	A New Mutation in Blau Syndrome
title_short	A New Mutation in Blau Syndrome
title_full	A New Mutation in Blau Syndrome
title_fullStr	A New Mutation in Blau Syndrome
title_full_unstemmed	A New Mutation in Blau Syndrome
title_sort	new mutation in blau syndrome
publisher	Hindawi Limited
series	Case Reports in Rheumatology
issn	2090-6889 2090-6897
publishDate	2015-01-01
description	Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.
url	http://dx.doi.org/10.1155/2015/463959
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A New Mutation in Blau Syndrome

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