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Korean J Pediatr. 2016 Nov;59(Suppl 1):S5-S9. doi: 10.3345/kjp.2016.59.11.S5. Epub 2016 Nov 30.

A familial case of Blau syndrome caused by a novel NOD2 genetic mutation.

Author information

1
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
2
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
3
Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea.

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 patient's outcome.

KEYWORDS:

Blau syndrome; Early-onset sarcoidosis; Nucleotide oligomerization domain 2; Single nucleotide polymorphism

Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

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