A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome

We report a 12-year-old girl who presented with bilateral granulomatous anterior uveitis accompanied by boggy arthritis of knee and ankle joints, intermittent fever, and nodular skin rash. She was diagnosed with sporadic Blau syndrome (early-onset sarcoidosis) based on above clinical signs and prese...

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Vydáno v:Ocul Immunol Inflamm
Hlavní autoři: Jain, Lubhani, Gupta, Namrata, Reddy, Mamatha M., Mittal, Ruchi, Barik, Manas Ranjan, Panigrahi, Bharat, Monie, Tom, Basu, Soumyava
Médium: Artigo
Jazyk:Inglês
Vydáno: Taylor & Francis 2016
Témata:
Letter to the Editor
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5849224/
https://ncbi.nlm.nih.gov/pubmed/27625029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/09273948.2016.1207789
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