Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis

Arthritis and Rheumatism

Volumn 60, Issue 1, 2009, Pages 242-250

  Okafuji, Ikuo ^a   Nishikomori, Ryuta ^a   Kanazawa, Nobuo ^a,b   Kambe, Naotomo ^a,c   Fujisawa, Akihiro ^a   Yamazaki, Shin ^a   Saito, Megumu ^a   Yoshioka, Takakazu ^a   Kawai, Tomoki ^a   Sakai, Hidemasa ^a   Tanizaki, Hideaki ^a   Heike, Toshio ^a   Miyachi, Yoshiki ^a   Nakahata, Tatsutoshi ^a  

^a KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^c CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; GENOMIC DNA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ADOLESCENT; ADULT; ARTHRITIS; ARTICLE; BLAU SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; FEMALE; FEVER; GENE MUTATION; GENOTYPE; HUMAN; MALE; ONSET AGE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RASH; SARCOIDOSIS; SYNDROME DELINEATION; UVEITIS;

ADOLESCENT; ADULT; AGE OF ONSET; ARTHRITIS; CHILD; DISEASE PROGRESSION; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; NF-KAPPA B; NOD2 SIGNALING ADAPTOR PROTEIN; PHENOTYPE; POINT MUTATION; PREDICTIVE VALUE OF TESTS; SARCOIDOSIS; SKIN DISEASES; SYNDROME; UVEITIS; VISION, LOW; YOUNG ADULT;

EID: 58249095950     PISSN: 00043591     EISSN: 15290131     Source Type: Journal    
DOI: 10.1002/art.24134     Document Type: Article

References (33)

1. Hetherington S. Sarcoidosis in young children. Am J Dis Child 1982;136:13-5.
2. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985;107:689-93.
3. Jabs DA, Houk JL, Bias WB, Arnett FC. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985;78:801-4.
4. Ohmen JD, Yang HY, Yamamoto KK, Zhao HY, Ma Y, Bentley LG, et al. Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis. Hum Mol Genet 1996;5:1679-83.
5. 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.
6. Kanazawa N, Matsushima S, Kambe N, Tachibana T, Nagai S, Miyachi Y. Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J Invest Dermatol 2004;122:851-2.
7. Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-κB activation: common genetic etiology with Blau syndrome. Blood 2005;105:1195-7.
8. 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.
9. 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.
10. Arostegui JI, Arnal C, Merino R, Modesto C, Carballo MA, Moreno P, et al. NOD2 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.
11. Girardin SE, Boneca IG, Viala J, Chamaillard M, Labigne A, Thomas G, et al. Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem 2003;278:8869-72.
12. Inohara N, Ogura Y, Fontalba A, Gutierrez O, Pons F, Crespo J, et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2: implications for Crohn's disease. J Biol Chem 2003;278:5509-12.
13. Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-κB. J Biol Chem 2001;276:4812-8.
14. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
15. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
16. Chamaillard M, Philpott D, Girardin SE, Zouali H, Lesage S, Chareyre F, et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A 2003;100:3455-60.
17. Yotsumoto S, Takahashi Y, Takei S, Shimada S, Miyata K, Kanzaki T. Early onset sarcoidosis masquerading as juvenile rheumatoid arthritis. J Am Acad Dermatol 2000;43(5 Pt 2):969-71.
18. Ukae S, Tsutsumi H, Adachi N, Takahashi H, Kato F, Chiba S. Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. Acta Paediatr Jpn 1994;36:515-8.
19. Sakurai Y, Nakajima M, Kamisue S, Nishimura Y, Ueda T, Miyagawa S, et al. Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis. Acta Paediatr Jpn 1997;39:74-8.
20. Kurokawa T, Kikuchi T, Ohta K, Imai H, Yoshimura N. Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. Ophthalmology 2003;110:2040-4.
21. Resnikoff S, Pascolini D, Etya'ale D, Kocur I, Pararajasegaram R, Pokharel GP, et al. Global data on visual impairment in the year 2002. Bull World Health Organ 2004;82:844-51.
22. 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.
23. Lindsley CB, Petty RE. Overview and report on international registry of sarcoid arthritis in childhood. Curr Rheumatol Rep 2000;2:343-8.
24. Milman N, Andersen CB, Hansen A, van Overeem Hansen T, Nielsen FC, Fledelius H, et al. Favourable effect of TNF-α inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. APMIS 2006;114:912-9.
25. Rotenstein D, Gibbas DL, Majmudar B, Chastain EA. Familial granulomatous arteritis with polyarthritis of juvenile onset. N Engl J Med 1982;306:86-90.
26. 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.
27. 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.
28. Becker ML, Martin TM, Doyle TM, Rose CD. Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. Arthritis Rheum 2007;56:1292-4.
29. Wolf U. Identical mutations and phenotypic variation [review]. Hum Genet 1997;100:305-21.
30. Osborne GE, Mallon E, Mayou SC. Juvenile sarcoidosis after BCG vaccination. J Am Acad Dermatol 2003;48(5 Suppl):S99-102.
31. Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 2006;440:237-41.
32. Pauleau AL, Murray PJ. Role of Nod2 in the response of macrophages to Toll-like receptor agonists. Mol Cell Biol 2003;23:7531-9.
33. Fink CW, Cimaz R. Early onset sarcoidosis: not a benign disease. J Rheumatol 1997;24:174-7.