Childhood Arthritis

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NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain

  1. Carlos D. Rosé1,*,
  2. Juan I. Aróstegui2,
  3. Tammy M. Martin3,
  4. Graciela Espada4,
  5. Lisabeth Scalzi5,
  6. Jordi Yagüe2,
  7. James T. Rosenbaum6,
  8. Consuelo Modesto7,
  9. Maria Cristina Arnal7,
  10. Rosa Merino8,
  11. Julia García-Consuegra8,
  12. María Antonia Carballo Silva9,
  13. Carine H. Wouters10

Article first published online: 28 MAY 2009

DOI: 10.1002/art.24533

Issue

Arthritis & Rheumatism

Arthritis & Rheumatism

Volume 60, Issue 6, pages 1797–1803, June 2009

Additional Information

How to Cite

Rosé, C. D., Aróstegui, J. I., Martin, T. M., Espada, G., Scalzi, L., Yagüe, J., Rosenbaum, J. T., Modesto, C., Cristina Arnal, M., Merino, R., García-Consuegra, J., Carballo Silva, M. A. and Wouters, C. H. (2009), NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain. Arthritis & Rheumatism, 60: 1797–1803. doi: 10.1002/art.24533

Author Information

  1. 1

    Thomas Jefferson University, Philadelphia, Pennsylvania, and DuPont Children's Hospital, Wilmington, Delaware

  2. 2

    Hospital Clinic, Barcelona, Spain

  3. 3

    Casey Eye Institute, and Oregon Health and Science University, Portland, Oregon

  4. 4

    Hospital de Niños Ricardo Gutiérrez, and Buenos Aires University, Buenos Aires, Argentina

  5. 5

    Pennsylvania State University College of Medicine, Hershey

  6. 6

    Oregon Health and Science University, Portland

  7. 7

    Hospital Vall d'Hebron, Barcelona, Spain

  8. 8

    Hospital La Paz, Madrid, Spain

  9. 9

    Hospital Xeral, Vigo, Spain

  10. 10

    University Hospital Gasthuisberg, Leuven, Belgium

*Division of Rheumatology, DuPont Children's Hospital, 1600 Rockland Road, Wilmington, DE 19899

Publication History

  1. Issue published online: 28 MAY 2009
  2. Article first published online: 28 MAY 2009
  3. Manuscript Accepted: 20 FEB 2009
  4. Manuscript Received: 14 OCT 2008

Funded by

  • Research to Prevent Blindness Career Development award
  • NIH. Grant Number: R01-EY-013139

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REFERENCES

  • 1
    Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, et al. Early onset sarcoidosis and CARD 15 mutations with constitutive nuclear factor-κB activation: common genetic etiology with Blau syndrome. Blood 2005, 105: 1195–7.
  • 2
    Rose CD, Doyle TM, McIlvain-Simpson G, Coffman JE, Rosenbaum JT, Davey MP, et al. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol 2005; 32: 373–5.
  • 3
    Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001; 29: 19–20.
  • 4
    Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985; 107: 689–93.
  • 5
    Jabs DA, Houk JL, Bias WB, Arnett FC. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985; 78: 801–4.
  • 6
    North AF Jr, Fink CW, Gibson WM, Levinson JE, Schuchter SL, Howard WK, et al. Sarcoid arthritis in children. Am J Med 1970; 48: 449–55.
  • 7
    Ting SS, Ziegler J, Fischer E. Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. J Pediatr 1998; 133: 450–2.
  • 8
    Saini SK, Rose CD. Liver involvement in familial granulomatous arthritis (Blau syndrome). J Rheumatol 1996; 23: 396–9.
  • 9
    Hafner R, Vogel P. Sarcoidosis of early onset: a challenge for the pediatric rheumatologist. Clin Exp Rheumatol 1993; 11: 685–91.
  • 10
    Rotenstein D, Gibbas DL, Majmudar B, Chastain EA. Familial granulomatous arteritis with polyarthritis of juvenile onset. N Engl J Med 1982; 306: 86–90.
  • 11
    Gedalia A, Shetty AK, Ward K, Correa H, Venters CL, Loe WA. Abdominal aortic aneurysm associated with childhood sarcoidosis. J Rheumatol 1996; 23: 757–9.
  • 12
    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: 724–6.
  • 13
    Rose CD, Eichenfield AH, Goldsmith DP, Athreya BH. Early onset sarcoidosis with aortitis—“juvenile systemic granulomatosis?” [published erratum appears in J Rheumatol 1990;17:575]. J Rheumatol 1990; 17: 102–6.
  • 14
    Fink CW, Cimaz R. Early onset sarcoidosis: not a benign disease. J Rheumatol 1997; 24: 174–7.
  • 15
    Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, Bovenmyer DA. Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr 1990; 117: 403–8.
  • 16
    Rose CD, Wouters CH, Meiorin S, Doyle TM, Davey MP, Rosenbaum JT, et al. Pediatric granulomatous arthritis: an international registry. Arthritis Rheum 2006; 54: 3337–44.
    Direct Link:
  • 17
    Arostegui JI, Arnal C, Merino R, Modesto C, Carballo MA, Moreno P, et al. NOD 2 gene–associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis Rheum 2007; 56: 3805–13.
    Direct Link:
  • 18
    Becker ML, Martin TM, Doyle TM, Rose CD. Interstitial pneumonitis in Blau syndrome with documented mutation in CARD 15. Arthritis Rheum 2007; 56: 1292–4.
    Direct Link:
  • 19
    Meiorin SM, Espada G, Costa CE, Tartara A, De Matteo E, Wouters CH, et al. Granulomatous nephritis associated with R334Q mutation in NOD2 [letter]. J Rheumatol 2007; 34: 1945–7.
  • 20
    Saulsbury FT, Wouters CH, Martin TM, Austin CR, Doyle TM, Goodwin KA, et al. Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. Arthritis Rheum 2009; 60: 1804–6.
    Direct Link:
  • 21
    Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, 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: 3041–5.
    Direct Link:
  • 22
    Coutant R, Leroy B, Niaudet P, Loirat C, Dommergues JP, Andre JL, et al. Renal granulomatous sarcoidosis in childhood: a report of 11 cases and a review of the literature. Eur J Pediatr 1999; 158: 154–9.
  • 23
    Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner E, Zellerer S, et al. Molecular analysis of the MVK and TNFSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 2004; 50: 1951–8.
    Direct Link:
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