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Yang, C. Blau Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4991 (accessed on 23 September 2026).
Yang C. Blau Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4991. Accessed September 23, 2026.
Yang, Catherine. "Blau Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4991 (accessed September 23, 2026).
Yang, C. (2020, December 24). Blau Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4991
Yang, Catherine. "Blau Syndrome." Encyclopedia. Web. 24 December, 2020.
Blau Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/blau-syndrome

Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.

genetic conditions

References

  1. 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 andCARD15 mutations with constitutive nuclear factor-kappaB activation: commongenetic etiology with Blau syndrome. Blood. 2005 Feb 1;105(3):1195-7.
  2. 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.
  3. Pillai P, Sobrin L. Blau syndrome-associated uveitis and the NOD2 gene. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):327-32. doi: 10.3109/08820538.2013.825285.
  4. 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.
  5. Punzi L, Gava A, Galozzi P, Sfriso P. Miscellaneous non-inflammatorymusculoskeletal conditions. Blau syndrome. Best Pract Res Clin Rheumatol. 2011Oct;25(5):703-14. doi: 10.1016/j.berh.2011.10.017. Review.
  6. Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011 Sep;23(5):411-8. doi: 10.1097/BOR.0b013e328349c430. Review.
  7. 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 expandingphenotype: study of an international registry and a national cohort in Spain.Arthritis Rheum. 2009 Jun;60(6):1797-803. doi: 10.1002/art.24533.
  8. Rosé CD, Doyle TM, McIlvain-Simpson G, Coffman JE, Rosenbaum JT, Davey MP,Martin TM. Blau syndrome mutation of CARD15/NOD2 in sporadic early onsetgranulomatous arthritis. J Rheumatol. 2005 Feb;32(2):373-5.
  9. Rosé CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P, Cimaz R,Espada G, Fernandez-Martin J, Hachulla E, Harjacek M, Khubchandani R, MackensenF, Merino R, Naranjo A, Oliveira-Knupp S, Pajot C, Russo R, Thomée C, Vastert S, Wulffraat N, Arostegui JI, Foley KP, Bertin J, Wouters CH. Blau syndrome:cross-sectional data from a multicentre study of clinical, radiological andfunctional outcomes. Rheumatology (Oxford). 2015 Jun;54(6):1008-16. doi:10.1093/rheumatology/keu437.
  10. Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau syndrome, the prototypicauto-inflammatory granulomatous disease. Pediatr Rheumatol Online J. 2014 Aug6;12:33. doi: 10.1186/1546-0096-12-33.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 943
Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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