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References

These sources were used to develop the Genetics Home Reference condition summary on Blau syndrome.

Borzutzky A, Fried A, Chou J, Bonilla FA, Kim S, Dedeoglu F. NOD2-associated diseases: Bridging innate immunity and autoinflammation. Clin Immunol. 2010 Mar;134(3):251-61. doi: 10.1016/j.clim.2009.05.005. Epub 2009 May 24. Review. PubMed citation
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7. Epub 2004 Sep 30. PubMed citation
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, Hugot JP. CARD15 mutations in Blau syndrome. Nat Genet. 2001 Sep;29(1):19-20. PubMed citation
Punzi L, Furlan A, Podswiadek M, Gava A, Valente M, De Marchi M, Peserico A. Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. Autoimmun Rev. 2009 Jan;8(3):228-32. doi: 10.1016/j.autrev.2008.07.034. Epub 2008 Aug 19. PubMed citation
Punzi L, Gava A, Galozzi P, Sfriso P. Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. Best Pract Res Clin Rheumatol. 2011 Oct;25(5):703-14. doi: 10.1016/j.berh.2011.10.017. Review. PubMed citation
Rosé CD, Aróstegui JI, Martin TM, Espada G, Scalzi L, Yagüe J, Rosenbaum JT, Modesto C, Cristina Arnal M, Merino R, García-Consuegra J, Carballo Silva MA, Wouters CH. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis Rheum. 2009 Jun;60(6):1797-803. doi: 10.1002/art.24533. PubMed citation
Rosé CD, Doyle TM, McIlvain-Simpson G, Coffman JE, Rosenbaum JT, Davey MP, Martin TM. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol. 2005 Feb;32(2):373-5. PubMed citation
Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011 Sep;23(5):411-8. doi: 10.1097/BOR.0b013e328349c430. Review. PubMed citation
Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, Inohara N, Nunez G, Tromp G, Williams CJ. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum. 2002 Nov;46(11):3041-5. PubMed citation


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