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CASE REPORT
Korean J Pediatr 2016 November;59(Suppl 1) :S5-9.
Published online 2016 November 30.       
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Woojoong Kim1, Eujin Park1, Yo Han Ahn1, Jiwon M. Lee1, Hee Gyung Kang1,2,3, Byung Joo Kim4, Il-Soo Ha1,2,3, Hae Il Cheong1,2,3
1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
1,2,3Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea
1,2,3Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea
4Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea
Corresponding Author: Hae Il Cheong ,Tel: +82-2-2072-2810, Fax: +82-2-743-3455, Email: cheonghi@snu.ac.kr
Copyright © 2016 by The Korean Pediatric Society
ABSTRACT
Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis. The computed tomography angiogram of the younger sister showed features of midaortic dysplastic syndrome. The brother had more prominent joint involvement than the sister. Their father (38 years) was also affected by uveitis; however, only minimal skin involvement was observed in his case. The paternal aunt (39 years) and her daughter (13 years) were previously diagnosed with sarcoidosis. Mutational analysis revealed a novel c.1439 A>G mutation in the NOD2 gene in both siblings. The novel c.1439 A>G mutation in the NOD2 gene was found in a familial case of BS. Although BS is rare, it should always be considered in patients presenting with sarcoidosis-like features at a young age. Early diagnosis of BS and prompt multisystem workup including the eyes and joints can improve the patients outcome.
Keywords: Blau syndrome | Early-onset sarcoidosis | Single nucleotide polymorphism | Nucleotide oligomerization domain 2
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