A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?

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• 作者：Yuzaburo Inoue (1)
  Yasushi Kawaguchi (2)
  Naoki Shimojo (1)
  Kenichi Yamaguchi (3)
  Yoshinori Morita (1)
  Taiji Nakano (1)
  Takayasu Arima (1)
  Minako Tomiita (4)
  Yoichi Kohno (1)
  
• 关键词：Blau syndrome ; Early ; onset sarcoidosis ; NOD2 ; Takayasu arteritis
• 刊名：Modern Rheumatology
• 出版年：2013
• 出版时间：July 2013
• 年：2013
• 卷：23
• 期：4
• 页码：837-839
• 全文大小：261KB
• 参考文献：1. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr. 1985;107(5):689鈥?3. CrossRef
  2. Kanazawa N, Okafuji I, Kambe N, et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood. 2005;105(3):1195鈥?. CrossRef
  3. Ohigashi H, Haraguchi G, Konishi M, et al. Improved prognosis of Takayasu arteritis over the past decade鈥攃omprehensive analysis of 106 patients. Circ J. 2012;76(4):1004鈥?1. CrossRef
  4. Ozen S, Pistorio A, Iusan SM, et al. EULAR/PRINTO/PRES criteria for Henoch-Schonlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: final classification criteria. Ann Rheum Dis. 2010;69(5):798鈥?06. CrossRef
  5. Okafuji I, Nishikomori R, Kanazawa N, et al. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum. 2009;60(1):242鈥?0. CrossRef
  6. Rose CD, Arostegui JI, Martin TM, et al. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis Rheum. 2009;60(6):1797鈥?03. CrossRef
  7. Wang X, Kuivaniemi H, Bonavita G, et al. 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;46(11):3041鈥?. CrossRef
  8. Saulsbury FT, Wouters CH, Martin TM, et al. Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. Arthritis Rheum. 2009;60(6):1804鈥?. CrossRef
  9. Rotenstein D, Gibbas DL, Majmudar B, Chastain EA. Familial granulomatous arteritis with polyarthritis of juvenile onset. N Engl J Medcine. 1982;306(2):86鈥?0. CrossRef
  10. Gross KR, Malleson PN, Culham G, Lirenman DS, McCormick AQ, Petty RE. Vasculopathy with renal artery stenosis in a child with sarcoidosis. J Pediatr. 1986;108(5 Pt 1):724鈥?.
  11. Rose CD, Eichenfield AH, Goldsmith DP, Athreya BH. Early onset sarcoidosis with aortitis鈥斺€渏uvenile systemic granulomatosis?鈥? J Rheumatol. 1990;17(1):102鈥?.
  
• 作者单位：Yuzaburo Inoue (1)
  Yasushi Kawaguchi (2)
  Naoki Shimojo (1)
  Kenichi Yamaguchi (3)
  Yoshinori Morita (1)
  Taiji Nakano (1)
  Takayasu Arima (1)
  Minako Tomiita (4)
  Yoichi Kohno (1)
  
  1. Department of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba, 260-8670, Japan
  2. Institute of Rheumatology, Tokyo Women鈥檚 Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo, 162-0054, Japan
  3. Division of Allergy and Rheumatology, St. Luke鈥檚 International Hospital, 9-1 Akashi-cho, Chuou-ku, Tokyo, 104-0044, Japan
  4. Department of Allergy and Rheumatology, Chiba Children鈥檚 Hospital, 579-1 Henda-cho, Midori-ku, Chiba, Chiba, 266-0007, Japan
  

文摘

Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.