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Modern Rheumatology Volume 23, 2013 - Issue 4
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Case Report

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

Yuzaburo InoueDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, JapanCorrespondence[email protected]
,
Yasushi KawaguchiInstitute of Rheumatology, Tokyo Women’s Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
,
Naoki ShimojoDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Kenichi YamaguchiDivision of Allergy and Rheumatology, St. Luke’s International Hospital, 9-1 Akashi-cho, Chuou-ku, Tokyo 104-0044, Japan
,
Yoshinori MoritaDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Taiji NakanoDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Takayasu ArimaDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
,
Minako TomiitaDepartment of Allergy and Rheumatology, Chiba Children’s Hospital, 579-1 Henda-cho, Midori-ku, Chiba, Chiba 266-0007, Japan
&
Yoichi KohnoDepartment of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan
 show all
Pages 837-839 | Received 03 Feb 2012, Accepted 27 Jun 2012, Published online: 02 Jan 2014

REFERENCES

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  • Ohigashi H, Haraguchi G, Konishi M, et al. Improved prognosis of Takayasu arteritis over the past decade-comprehensive analysis of 106 patients. Circ J. 2012;76(4):1004–11.
  • 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 cri-teria. Ann Rheum Dis. 2010;69(5):798–806.
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  • 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):3041–5.
  • Saulsbury FT, Wouters CH, Martin TM, et al. Incomplete pene-trance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. Arthritis Rheum. 2009;60(6):1804–6.
  • Rotenstein D, Gibbas DL, Majmudar B, Chastain EA. Familial granulomatous arteritis with polyarthritis of juvenile onset. N Engl J Medcine. 1982;306(2):86–90.
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