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Articles

A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members

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Pages 190-197 | Accepted 09 Sep 2008, Published online: 13 Aug 2009

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Shijing Wu, Linqing Zhong, Zixi Sun, Tian Zhu, Hongmei Song & Ruifang Sui. (2020) Ocular Features in Chinese Patients with Blau Syndrome. Ocular Immunology and Inflammation 28:1, pages 79-85.
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Fangling Yao, Bei Tan, Di Wu & Min Shen. (2023) Blau syndrome with hypertension and hepatic granulomas: a case report and literature review. Frontiers in Pediatrics 11.
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Xiu-Feng Huang & Matthew A. Brown. (2022) Progress in the genetics of uveitis. Genes & Immunity 23:2, pages 57-65.
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Ilaria Maccora, Edoardo Marrani, Maria Vincenza Mastrolia, Sarah Abu-Rumeileh, Valerio Maniscalco, Eleonora Fusco, Federica Barbati, Ilaria Pagnini & Gabriele Simonini. (2021) Ocular involvement in monogenic autoinflammatory disease. Autoimmunity Reviews 20:11, pages 102944.
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Ankur Kumar Jindal, Rakesh Kumar Pilania, Deepti Suri, Anju Gupta, Marco Gattorno, Isabella Ceccherini, Nitin Kumar, Rima Bansal, Ritambhra Nada & Surjit Singh. (2019) A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. Rheumatology International 41:1, pages 173-181.
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Eleni Maria Papatesta, Lydia Kossiva, Maria Tsolia & Despoina Maritsi. (2020) Persistent Tenosynovitis, Steroid Dependency and a Hyperpigmented Scaly Macular Rash in a Child With Juvenile Idiopathic Arthritis. Cureus.
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Bruno C. Trindade & Grace Y. Chen. (2020) NOD1 and NOD2 in inflammatory and infectious diseases. Immunological Reviews 297:1, pages 139-161.
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Wendy Brown, S Fiona Bonar, Louis McGuigan, Judy Soper & Richard Boyle. (2020) Blau syndrome: a rare cause of exuberant granulomatous synovitis of the knee. Skeletal Radiology 49:7, pages 1161-1166.
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Eloisa Arbustini, Nupoor Narula, Lorenzo Giuliani & Alessandro Di Toro. 2020. Myocarditis. Myocarditis 45 89 .
Rebecca Trachtman & Karen B. Onel. 2019. Auto-Inflammatory Syndromes. Auto-Inflammatory Syndromes 61 67 .
Jaime Toral‐López, Luz M. González‐Huerta, Mónica Martín‐del Campo, Olga Messina‐Baas & Sergio A. Cuevas‐Covarrubias. (2018) Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide‐binding oligomerization domain‐containing protein 2 gene with good response to infliximab. Pediatric Dermatology 35:3.
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Caifeng Li, Junmei Zhang, Shipeng Li, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng & Xiaohua Tan. (2017) Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. Science China Life Sciences 60:7, pages 758-762.
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Francesco La Torre, Giovanni Lapadula, Luca Cantarini, Orso Maria Lucherini & Florenzo Iannone. (2014) Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature. Clinical Rheumatology 34:2, pages 391-395.
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Carine H Wouters, Anne Maes, Kevin P Foley, John Bertin & Carlos D Rose. (2014) Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatric Rheumatology 12:1.
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Francesco Caso, Luisa Costa, Donato Rigante, Antonio Vitale, Rolando Cimaz, Orso Maria Lucherini, Paolo Sfriso, Elena Verrecchia, Sofia Tognon, Vittoria Bascherini, Mauro Galeazzi, Leonardo Punzi & Luca Cantarini. (2014) Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. Autoimmunity Reviews 13:12, pages 1220-1229.
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Rhiannon Parkhouse, Joseph P. Boyle & Tom P. Monie. (2014) Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. FEBS Letters 588:18, pages 3382-3389.
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Carlos D. Rose, Benedicte Neven & Carine Wouters. (2014) Granulomatous inflammation: The overlap of immune deficiency and inflammation. Best Practice & Research Clinical Rheumatology 28:2, pages 191-212.
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Donato Rigante, Giuseppe Lopalco, Antonio Vitale, Orso Maria Lucherini, Francesco Caso, Caterina De Clemente, Francesco Molinaro, Mario Messina, Luisa Costa, Mariangela Atteno, Franco Laghi-Pasini, Giovanni Lapadula, Mauro Galeazzi, Florenzo Iannone & Luca Cantarini. (2014) Untangling the Web of Systemic Autoinflammatory Diseases. Mediators of Inflammation 2014, pages 1-15.
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Francesco Caso, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Luisa Costa, Mariangela Atteno, Adele Compagnone, Paolo Caso, Bruno Frediani, Mauro Galeazzi, Leonardo Punzi & Luca Cantarini. (2013) Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues. International Journal of Rheumatology 2013, pages 1-15.
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Paolo Sfriso, Francesco Caso, Sofia Tognon, Paola Galozzi, Alessandra Gava & Leonardo Punzi. (2012) Blau syndrome, clinical and genetic aspects. Autoimmunity Reviews 12:1, pages 44-51.
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RAJU P. KHUBCHANDANI, RACHANA HASIJA, ISABELLE TOUITOU, CHETNA KHEMANI, CARINE H. WOUTERS & CARLOS D. ROSE. (2012) Blau Arteritis Resembling Takayasu Disease with a Novel NOD2 Mutation. The Journal of Rheumatology 39:9, pages 1888-1892.
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Leonardo Punzi, Alessandra Gava, Paola Galozzi & Paolo Sfriso. (2011) Blau syndrome. Best Practice & Research Clinical Rheumatology 25:5, pages 703-714.
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Carlos D. Rose, Tammy M. Martin & Carine H. Wouters. (2011) Blau syndrome revisited. Current Opinion in Rheumatology 23:5, pages 411-418.
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Julie L. Cantatore-Francis & Julie V. Schaffer. 2011. Harper's Textbook of Pediatric Dermatology. Harper's Textbook of Pediatric Dermatology 158.1 158.11 .
M. C. Jimenez-Martinez, F. Cruz, S. Groman-Lupa & J. C. Zenteno. (2011) Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. International Journal of Immunogenetics 38:3, pages 233-242.
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Donato Rigante & Ettore Capoluongo. (2011) The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation. Clinical Chemistry and Laboratory Medicine 49:5.
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