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A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177712/ https://www.ncbi.nlm.nih.gov/pubmed/28018435 http://dx.doi.org/10.3345/kjp.2016.59.11.S5 |
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author | Kim, Woojoong Park, Eujin Ahn, Yo Han Lee, Jiwon M. Kang, Hee Gyung Kim, Byung Joo Ha, Il-Soo Cheong, Hae Il |
author_facet | Kim, Woojoong Park, Eujin Ahn, Yo Han Lee, Jiwon M. Kang, Hee Gyung Kim, Byung Joo Ha, Il-Soo Cheong, Hae Il |
author_sort | Kim, Woojoong |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5177712 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | The Korean Pediatric Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-51777122016-12-23 A familial case of Blau syndrome caused by a novel NOD2 genetic mutation Kim, Woojoong Park, Eujin Ahn, Yo Han Lee, Jiwon M. Kang, Hee Gyung Kim, Byung Joo Ha, Il-Soo Cheong, Hae Il Korean J Pediatr Case Report 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. The Korean Pediatric Society 2016-11 2016-11-30 /pmc/articles/PMC5177712/ /pubmed/28018435 http://dx.doi.org/10.3345/kjp.2016.59.11.S5 Text en Copyright © 2016 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Kim, Woojoong Park, Eujin Ahn, Yo Han Lee, Jiwon M. Kang, Hee Gyung Kim, Byung Joo Ha, Il-Soo Cheong, Hae Il A familial case of Blau syndrome caused by a novel NOD2 genetic mutation |
title | A familial case of Blau syndrome caused by a novel NOD2 genetic mutation |
title_full | A familial case of Blau syndrome caused by a novel NOD2 genetic mutation |
title_fullStr | A familial case of Blau syndrome caused by a novel NOD2 genetic mutation |
title_full_unstemmed | A familial case of Blau syndrome caused by a novel NOD2 genetic mutation |
title_short | A familial case of Blau syndrome caused by a novel NOD2 genetic mutation |
title_sort | familial case of blau syndrome caused by a novel nod2 genetic mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177712/ https://www.ncbi.nlm.nih.gov/pubmed/28018435 http://dx.doi.org/10.3345/kjp.2016.59.11.S5 |
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