Familial Blau syndrome: First molecularly confirmed report from India

Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tube...

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Autores principales: Janarthanan, Mahesh, Poddar, Chanchal, Sudharshan, S, Seabra, Luis, Crow, Yanick J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324106/
https://www.ncbi.nlm.nih.gov/pubmed/30574935
http://dx.doi.org/10.4103/ijo.IJO_671_18
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author Janarthanan, Mahesh
Poddar, Chanchal
Sudharshan, S
Seabra, Luis
Crow, Yanick J
author_facet Janarthanan, Mahesh
Poddar, Chanchal
Sudharshan, S
Seabra, Luis
Crow, Yanick J
author_sort Janarthanan, Mahesh
collection PubMed
description Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients – the first such molecularly proven case report of familial BS from India.
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spelling pubmed-63241062019-01-25 Familial Blau syndrome: First molecularly confirmed report from India Janarthanan, Mahesh Poddar, Chanchal Sudharshan, S Seabra, Luis Crow, Yanick J Indian J Ophthalmol Case Reports Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients – the first such molecularly proven case report of familial BS from India. Medknow Publications & Media Pvt Ltd 2019-01 /pmc/articles/PMC6324106/ /pubmed/30574935 http://dx.doi.org/10.4103/ijo.IJO_671_18 Text en Copyright: © 2018 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Janarthanan, Mahesh
Poddar, Chanchal
Sudharshan, S
Seabra, Luis
Crow, Yanick J
Familial Blau syndrome: First molecularly confirmed report from India
title Familial Blau syndrome: First molecularly confirmed report from India
title_full Familial Blau syndrome: First molecularly confirmed report from India
title_fullStr Familial Blau syndrome: First molecularly confirmed report from India
title_full_unstemmed Familial Blau syndrome: First molecularly confirmed report from India
title_short Familial Blau syndrome: First molecularly confirmed report from India
title_sort familial blau syndrome: first molecularly confirmed report from india
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324106/
https://www.ncbi.nlm.nih.gov/pubmed/30574935
http://dx.doi.org/10.4103/ijo.IJO_671_18
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