Blau Syndrome, the prototypic auto-inflammatory granulomatous disease

Pediatric Rheumatology

Volumn 12, Issue 1, 2014, Pages

  Wouters, Carine H ^a,b   Maes, Anne ^b   Foley, Kevin P ^d   Bertin, John ^d   Rose, Carlos D ^c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d GLAXOSMITHKLINE   (United States)

Author keywords

Blau syndrome; Granulomatous diseases; NOD2; RIP2 kinase; Sarcoidosis; Uveitis

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; NOD2 PROTEIN, HUMAN;

BLAU SYNDROME; CLINICAL FEATURE; CRANIAL NEUROPATHY; DISEASE COURSE; ERYTHEMA NODOSUM; FACIAL NERVE PARALYSIS; GAIN OF FUNCTION MUTATION; GENOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; INTERSTITIAL NEPHRITIS; NOMENCLATURE; PATHOGENESIS; RASH; REVIEW; TISSUE STRUCTURE; UVEITIS; ARTHRITIS; CLINICAL TRIAL; DERMATITIS; GENETICS; GRANULOMA; HEREDITARY PERIODIC FEVER; MULTICENTER STUDY; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PROSPECTIVE STUDY; SIGNAL TRANSDUCTION; SYNOVITIS;

ARTHRITIS; CRANIAL NERVE DISEASES; DERMATITIS; GRANULOMA; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; MUTATION; NOD2 SIGNALING ADAPTOR PROTEIN; PROSPECTIVE STUDIES; SIGNAL TRANSDUCTION; SYNOVITIS; UVEITIS;

EID: 84908283130     PISSN: None     EISSN: 15460096     Source Type: Journal    
DOI: 10.1186/1546-0096-12-33     Document Type: Review

References (52)

1. Blau EB. Familial granulomatous arthritis, iritis, and rash. J Pediatr 1985, 107:689-693.
2. Jabs DA, Houk JL, Bias WB, Arnett FC. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985, 78:801-804.
3. Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP. CARD15 mutations in Blau syndrome. Nat Genet 2001, 29:19-20.
4. 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, 122:851-852.
5. Rose CD, Doyle TM, McIlvain-Simpson G, Coffman JE, Rosenbaum JT, Davey MP, Martin TM. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol 2005, 32:373-375.
6. Rose CD, Wouters CH, Meiorin S, Doyle TM, Davey MP, Rosenbaum JT, Martin TM. Pediatric granulomatous arthritis: an international registry. Arthritis Rheum 2006, 54:3337-3344.
7. Janssen CE, Rose CD, De Hertogh G, Martin TM, Bader Meunier B, Cimaz R, Harjacek M, Quartier P, Ten Cate R, Thomee C, Desmet VJ, Fischer A, Roskams T, Wouters CH. Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. J Allergy Clin Immunol 2012, 129:1076-1084.
8. Rose CD, Cimaz R, Thomee C, Khubchandani RP, Espada G, Russo R, Harjacek M, Bader Meunier B, Brissaud P, Wulffraat N, Vastert S, Merino R, Naranjo-Hernandez A, Oliveira-Knupp S, Mackensen F, Arostegui J, Anton J, Fernandez-Martin J, Wouters C. Blau Prospective Cohort Study: Articular and Ocular Outcomes 2013, Lausanne, Switzerland: 17th Congress of ISSAID, International Society of Systemic Auto-Inflammatory Diseases.
9. Arostegui JI, Arnal C, Merino R, Modesto C, Antonia Carballo M, Moreno P, Garcia-Consuegra J, Naranjo A, Ramos E, de Paz P, Ruis J, Plaza S, Yagüe J. 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, 56:3805-3813.
10. Hafner R, Vogel P. Sarcoidosis of early onset. A challenge for the pediatric rheumatologist. Clin Exp Rheumatol 1993, 11:685-691.
11. North AF, Fink CW, Gibson WM, Levinson JE, Schuchter SL, Howard WK, Johnson NH, Harris C. Sarcoid arthritis in children. Am J Med 1970, 48:449-455.
12. 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, 117:403-408.
13. Raphael SA, Blau EB, Zhang WH, Hsu SH. Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. Am J Dis Child 1993, 147:842-848.
14. Rose CD, Martin TM. Caspase recruitment domain 15 mutations and rheumatic diseases. Curr Opin Rheumatol 2005, 17:579-585.
15. Stoevesandt J, Morbach H, Martin TM, Zierhut M, Girschick H, Hamm H. Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. Pediatr Dermatol 2010, 27:69-73.
16. Lindsley CB, Godfrey WA. Childhood sarcoidosis manifesting as juvenile rheumatoid arthritis. Pediatrics 1985, 76:765-768.
17. Rose CD, Arostegui JI, Martin TM, Espada G, Scalzi L, Yague J, Rosenbaum JT, Modesto C, Cristina Arnal M, Merino R, García-Consuegra J, Carballo Silva MA, Wouters CH. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis Rheum 2009, 60:1797-1803.
18. 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, 108:724-726.
19. Rose CD, Eichenfield AH, Goldsmith DP, Athreya BH. Early onset sarcoidosis with aortitis-" juvenile systemic granulomatosis?". J Rheumatol 1990, 17:102-106.
20. Rotenstein D, Gibbas DL, Majmudar B, Chastain EA. Familial granulomatous arteritis with polyarthritis of juvenile onset. N Engl J Med 1982, 306:86-90.
21. Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, Inohara N, Nunez G, Tromp G, Williams CJ. 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, 46:3041-3045.
22. Mourad F, Tang A. Sinus of valsalva aneurysm in Blau's syndrome. J Cardiothorac Surg 2010, 5:16.
23. Khubchandani RP, Hasija R, Touitou I, Khemani C, Wouters CH, Rose CD. Blau arteritis resembling Takayasu disease with a novel NOD2 mutation. J Rheumatol 2012, 39:1888-1892.
24. Nia AE, Nabavi M, Nasab MM. Central nervous system involvement in Blau syndrome: a new feature of the syndrome?. J Rheumatol 2007, 34:2504-2505.
25. Becker ML, Martin TM, Doyle TM, Rose CD. Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. Arthritis Rheum 2007, 56:1292-1294.
26. Meiorin SM, Espada G, Costa CE, Tartara A, De Matteo E, Wouters C, Martin TM, Rose CD. Granulomatous nephritis associated with R334Q mutation in NOD2. J Rheumatol 2007, 34:1945-1947.
27. Ting SS, Ziegler J, Fischer E. Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. J Pediatr 1998, 133:450-452.
28. Saini SK, Rose CD. Liver involvement in familial granulomatous arthritis (Blau syndrome). J Rheumatol 1996, 23:396-399.
29. Simonini G, Xu Z, Caputo R, De Libero C, Pagnini I, Pascual V, Cimaz R. Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. Arthritis Rheum 2013, 65:513-518.
30. 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 and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood 2005, 105:1195-1197.
31. Milman N, Ursin K, Rodevand E, Nielsen FC, Hansen TV. A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. Scand J Rheumatol 2009, 38:190-197.
32. Okada S, Konishi N, Tsumura M, Shirao K, Yasunaga S, Sakai H, Nishikomori R, Takihara Y, Kobayashi M. Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15. Rheumatology 2009, 48:706-707.
33. Priori R, Bombardieri M, Spinelli FR, Merlin F, Miceli-Richard C, La Cava M, Scavalli AS, Guerrisi R, Hugot JP, Valesini G. Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. Sarcoidosis Vasc Diffuse Lung Dis 2004, 21:228-231.
34. Sakai H, Ito S, Nishikomori R, Takaoka Y, Kawai T, Saito M, Okafuji I, Yasumi T, Heike T, Nakahata T. A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene. Rheumatology 2010, 49:194-196.
35. van Duist MM, Albrecht M, Podswiadek M, Giachino D, Lengauer T, Punzi L, De Marchi M. A new CARD15 mutation in Blau syndrome. Eur J Hum Genet 2005, 13:742-747.
36. Villanueva-Mendoza C, Arellanes-Garcia L, Cubas-Lorenzo V, Jimenez-Martinez MC, Flores-Suarez LF, Zenteno JC. Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. Ophthalmic Genet 2010, 31:155-158.
37. Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol 2011, 23:411-418.
38. Infevers Registry. [fmf.igh.cnrs.fr/infevers].
39. Okafuji I, Nishikomori R, Kanazawa N, Kambe N, Fujisawa A, Yamazaki S, Saito M, Yoshioka T, Kawai T, Sakai H, Tanizaki H, Heike T, Miyachi Y, Nakahata T. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum 2009, 60:242-250.
40. Saulsbury FT, Wouters CH, Martin TM, Austin CR, Doyle TM, Goodwin KA, Rose CD. Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. Arthritis Rheum 2009, 60:1804-1806.
41. Cho JH, Abraham C. Inflammatory bowel disease genetics: NOD2. Annu Rev Med 2007, 60:401-416.
42. Facco M, Cabrelle A, Teramo A, Olivieri V, Gnoato M, Teolato S, Ave E, Gattazzo C, Fadini GP, Calabrese F, Semenzato G, Agostini C. Sarcoidosis is a Th1/Th17 multisystem disorder. Thorax 2011, 66:144-150.
43. van Beelen AJ, Zelinkova Z, Taanman-Kueter EW, Muller FJ, Hommes DW, Zaat SA, Kapsenberg ML, de Jong EC. Stimulation of the intracellular bacterial sensor NOD2 programs dendritic cells to promote interleukin-17 production in human memory T cells. Immunity 2007, 27:660-669.
44. Zhong Y, Kinio A, Saleh M. Functions of NOD-like receptors in human diseases. Front Immunol 2013, 16:333.
45. Jun JC, Cominelli F, Abbott DW. RIP2 activity in inflammatory diseases and implications for novel therapeutics. J Leukoc Biol 2013, 94:927-932.
46. Shaw MH, Reimer T, Sanchez-Valdepenas C, Warner N, Kim YG, Fresno M, Nunez G. T cell-intrinsic role of Nod2 in promoting type 1 immunity to Toxoplasma gondii. Nat Immunol 2009, 10:1267-1274.
47. Sabbah A, Chang TH, Harnack R, Frohlich V, Tominaga K, Dube PH, Xiang Y, Bose S. Activation of innate immune antiviral responses by Nod2. Nat Immunol 2009, 10:1073-1080.
48. Travassos LH, Carneiro LA, Ramjeet M, Hussey S, Kim YG, Magalhaes JG, Yuan L, Soares F, Chea E, Le Bourhis L, Boneca IG, Allaoui A, Jones NL, Nuñez G, Girardin SE, Philpott DJ. Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry. Nat Immunol 2010, 11:55-62.
49. Chamaillard M, Philpott D, Girardin SE, Zouali H, Lesage S, Chareyre F, Bui TH, Giovannini M, Zaehringer U, Penard-Lacronique V, Sansonetti PJ, Hugot JP, Thomas G. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A 2003, 100:3455-3460.
50. Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007, 56:1273-1285.
51. Martin TM, Zhang Z, Kurz P, Rose CD, Chen H, Lu H, Planck SR, Davey MP, Rosenbaum JT. The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. Arthritis Rheum 2009, 60:611-618.
52. Foley KP, Wang L, Cooper D, Magid-Slav M, Lipshutz D, Connor J, Miller M, Votta B, Gough P, Valencia X, Wouters CH, Rosé CD, Bertin J. Identification of Blau Syndrome disease signatures. Pediatr Rheumatol 2011, 9(Suppl 1):O25.