Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis

Autoimmunity Reviews

Volumn 13, Issue 12, 2014, Pages 1220-1229

  Caso, Francesco ^a,b   Costa, Luisa ^c   Rigante, Donato ^d   Vitale, Antonio ^a   Cimaz, Rolando ^e   Lucherini, Orso Maria ^a   Sfriso, Paolo ^b   Verrecchia, Elena ^d   Tognon, Sofia ^b   Bascherini, Vittoria ^a   Galeazzi, Mauro ^a   Punzi, Leonardo ^b   Cantarini, Luca ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Blau syndrome; Early onset sarcoidosis; Pediatric granulomatous autoinflammatory disease

Indexed keywords

AZATHIOPRINE; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CORTICOSTEROID; METHOTREXATE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; THALIDOMIDE; DRUG COMBINATION;

AUTOIMMUNITY; AUTOINFLAMMATORY DISEASE; BLAU SYNDROME; CLINICAL FEATURE; CORTICOSTEROID THERAPY; DIFFERENTIAL DIAGNOSIS; EARLY ONSET SARCOIDOSIS; GENE IDENTIFICATION; GENE MUTATION; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; INCIDENCE; NONHUMAN; PATHOGENESIS; PREVALENCE; REVIEW; SARCOIDOSIS; SKIN MANIFESTATION; SYSTEMIC DISEASE; ANIMAL; AUTOIMMUNE DISEASES; CRANIAL NERVE DISEASES; DRUG COMBINATION; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; INFLAMMATION; SYNOVITIS; UVEITIS;

ANIMALS; AUTOIMMUNE DISEASES; CRANIAL NERVE DISEASES; DRUG COMBINATIONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFLAMMATION; SARCOIDOSIS; SYNOVITIS; UVEITIS;

EID: 84908877291     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2014.08.010     Document Type: Review

References (118)

1. Sfriso P., Caso F., Tognon S., Galozzi P., Gava A., Punzi L. Blau syndrome, clinical and genetic aspects. Autoimmun Rev 2012, 12:44-51.
2. Caso F., Rigante D., Vitale A., Lucherini O.M., Costa L., Atteno M., et al. Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. Int J Rheumatol 2013, 2013:513782.
3. Caso F., Cantarini L., Lucherini O.M., Sfriso P., Fioretti M., Costa L., et al. Working the endless puzzle of hereditary autoinflammatory disorders. Mod Rheumatol 2014, 24:381-389.
4. Blau E.B. Familial granulomatous arthritis, iritis, rash. J Pediatr 1985, 107:689-693.
5. Punzi L., Furlan A., Podswiadek M., Gava A., Valente M., De Marchi M., et al. Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. Autoimmun Rev 2009, 8:228-232.
6. Ogura Y., Inohara N., Benito A., Chen F.F., Yamaoka S., Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappa B. J Biol Chem 2001, 276:4812-4818.
7. Begue B., Dumant C., Bambou J.C., Beaulieu J.F., Chamaillard M., Hugot J.P., et al. Microbial induction of CARD15 expression in intestinal epithelial cells via Toll-like receptor 5 triggers an antibacterial response loop. J Cell Physiol 2006, 209:241-252.
8. Lecat A., Piette J., Legrand-Poels S. The protein Nod2: an innate receptor more complex than previously assumed. Biochem Pharmacol 2010, 80:2021-2031.
9. Barnich N., Aguirre J.E., Reinecker H.C., Xavier R., Podolsky D.K. Membrane recruitment of NOD2 in intestinal epithelial cells is essential for nuclear factor-{kappa}B activation in muramyl dipeptide recognition. J Cell Biol 2005, 170:21-26.
10. Tattoli I., Travassos L.H., Carneiro L.A., Magalhaes J.G., Girardin S.E. The nodosome: Nod1 and Nod2 control bacterial infections and inflammation. Semin Immunopathol 2007, 29:289-301.
11. Chen G., Shaw M.H., Kim Y.G., Nuñez G. NOD-like receptors: role in innate immunity and inflammatory disease. Annu Rev Pathol 2009, 4:365-398.
12. Kobayashi K., Inohara N., Hernandez L.D., Galan J.E., Nunez G., Janeway C.A., et al. RICK/Rip2/CARDIAK mediates signalling for receptors of the innate and adaptive immune systems. Nature 2002, 416:194-199.
13. Travassos L.H., Carneiro L.A., Ramjeet M., Hussey S., Kim Y.G., Magalhães J.G., et al. Nod1 and NOD2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry. Nat Immunol 2010, 11:55-62.
14. Tanabe T., Chamaillard M., Ogura Y., Zhu L., Qiu S., Masumoto J., et al. Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. EMBO J 2004, 23:1587-1597.
15. Barnich N., Hisamatsu T., Aguirre J.E., Xavier R., Reinecker H.C., Podolsky D.K. GRIM-19 interacts with nucleotide oligomerization domain 2 and serves as downstream effector of anti-bacterial function in intestinal epithelial cells. J Biol Chem 2005, 280:19021-19026.
16. Magalhaes J.G., Lee J., Geddes K., Rubino S., Philpott D.J., Girardin S.E. Essential role of Rip2 in the modulation of innate and adaptive immunity triggered by Nod1 and NOD2 ligands. Eur J Immunol 2011, 41:1445-1455.
17. Rosenstiel P., Fantini M., Bräutigam K., Kühbacher T., Waetzig G.H., Seegert D., et al. TNF-alpha and IFN-gamma regulate the expression of the NOD2 (CARD15) gene in human intestinal epithelial cells. Gastroenterology 2003, 124:1001-1009.
18. Strober W., Murray P.J., Kitani A., Watanabe T. Signaling pathways and molecular interactions of NOD1 and NOD2. Nat Rev Immunol 2006, 6:9-20.
19. Sabbah A., Chang T.H., Harnack R., Frohlich V., Tominaga K., Dube P.H., et al. Activation of innate immune antiviral responses by Nod2. Nat Immunol 2009, 10:1073-1080.
20. Antosz H., Osiak M. NOD1 and NOD2 receptors: integral members of the innate and adaptive immunity system. Acta Biochim Pol 2013, 60:351-360.
21. Chamaillard M., Philpott D., Girardin S.E., 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, 100:3455-3460.
22. Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001, 411:599-603.
23. Ogura Y., Bonen D.K., Inohara N., Nicolae D.L., Chen F.F., Ramos R., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001, 411:603-606.
24. Philpott D.J., Sorbara M.T., Robertson S.J., Croitoru K., Girardin S.E. NOD proteins: regulators of inflammation in health and disease. Nat Rev Immunol 2014, 14:9-23.
25. Moreira L.O., Zamboni D.S. NOD1 and NOD2 signaling in infection and inflammation. Front Immunol 2012, 3:328.
26. Caso F., Wouters C.H., Rose C.D., Costa L., Tognon S., Sfriso P., et al. Blau syndrome and latent tubercular infection: an unresolved partnership. Int J Rheum Dis 2014, 17:586-587.
27. Dow C.T., Ellingson J.L. Detection of Mycobacterium avium ss. paratuberculosis in Blau syndrome tissues. Autoimmune Dis 2010, 2011:127692.
28. Rosé C.D., Martin T.M., Wouters C.H. Blau syndrome revisited. Curr Opin Rheumatol 2011, 23:411-418.
29. Kobayashi K.S., Chamaillard M., Ogura Y., Henegariu O., Inohara N., Nuñez G., et al. Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract. Science 2005, 307:731-734.
30. Jabs D.A., Houk J.L., Bias W.B., Arnett F.C. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 1985, 78:801-804.
31. Pastores G.M., Michels V.V., Stickler G.B., Su W.P., Nelson A.M., Bovenmyer D.A. Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr 1990, 117:403-408.
32. Rosé C.D., Eichenfield A.H., Goldsmith D.P., Athreya B.H. Early onset sarcoidosis with aortitis-"juvenile systemic granulomatosis?". J Rheumatol 1990, 17:102-106.
33. deChadarévian J.P., Raphael S.A., Murphy G.F. Histologic, ultrastructural, and immunocytochemical features of the granulomas seen in a child with the syndrome of familial granulomatous arthritis, uveitis, and rash. Arch Pathol Lab Med 1993, 117:1050-1052.
34. Hafner R., Vogel P. Sarcoidosis of early onset. A challenge for the pediatric rheumatologist. Clin Exp Rheumatol 1993, 11:685-691.
35. Raphael S.A., Blau E.B., Zhang W.H., Hsu S.H. Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. Am J Dis Child 1993, 147:842-848.
36. Moraillon I., Hayem F., Bourrillon A., Morel P., Rybojad M. Blau syndrome or familial form of sarcoidosis with onset during infancy. Ann Dermatol Venereol 1996, 123:29-30.
37. Saini S.K., Rose C.D. Liver involvement in familial granulomatous arthritis (Blau syndrome). J Rheumatol 1996, 23:396-399.
38. Tromp G., Kuivaniemi H., Raphael S., Ala-Kokko L., Christiano A., Considine E., et al. Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet 1996, 59:1097-1107.
39. Scerri L., Cook L.J., Jenkins E.A., Thomas A.L. Familial juvenile systemic granulomatosis (Blau's syndrome). Clin Exp Dermatol 1996, 21:445-448.
40. Shetty A.K., Gedalia A. Early onset sarcoidosis. J Rheumatol 1998, 25:395.
41. Cancrini C., Angelini F., Colavita M., Cortis E., Chini L., Mammone F., et al. Erythema nodosum: a presenting sign of early onset sarcoidosis. Clin Exp Rheumatol 1998, 16:337-339.
42. Manouvrier-Hanu S., Puech B., Piette F., Boute-Benejean O., Desbonnet A., Duquesnoy B., et al. Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. Am J Med Genet 1998, 76:217-221.
43. Ting S.S., Ziegler J., Fischer E. Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. J Pediatr 1998, 133:450-452.
44. Cuesta I.A., Moore E.C., Rabah R., Bawle E.V. Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an African-American family. J Clin Rheumatol 2000, 6:30-34.
45. 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, 43:969-971.
46. Miceli-Richard C., Lesage S., Rybojad M., Prieur A.M., Manouvrier-Hanu S., Häfner R., et al. CARD15 mutations in Blau syndrome. Nat Genet 2001, 29:19-20.
47. 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, 46:3041-3045.
48. Latkany P.A., Jabs D.A., Smith J.R., Rosenbaum J.T., Tessler H., Schwab I.R., et al. Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. Am J Ophthalmol 2002, 134:897-904.
49. Ewida A.S., Raphael S.A., Abbasi J.A., Geslani G.P., Bagasra O. Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. Appl Immunohistochem Mol Morphol 2002, 10:171-177.
50. Alonso D., Elgart G.W., Schachner L.A. Blau syndrome: a new kindred. J Am Acad Dermatol 2003, 49:299-302.
51. Kurokawa T., Kikuchi T., Ohta K., Imai H., Yoshimura N. Ocular manifestations in Blau syndrome associated with a CARD15/NOD2 mutation. Ophthalmology 2003, 110:2040-2044.
52. 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.
53. Priori R., Bombardieri M., Spinelli F.R., Merlin F., Miceli-Richard C., La Cava M., et al. 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.
54. Masel G., Halbert A. Blau syndrome presenting with ichthyosis. Australas J Dermatol 2005, 46:29-32.
55. van Duist M.M., Albrecht M., Podswiadek M., Giachino D., Lengauer T., Punzi L., et al. A new CARD15 mutation in Blau syndrome. Eur J Hum Genet 2005, 13:742-747.
56. Rosé C.D., Doyle T.M., McIlvain-Simpson G., Coffman J.E., Rosenbaum J.T., Davey M.P., et al. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol 2005, 32:373-375.
57. 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-kappa B activation: common genetic etiology with Blau syndrome. Blood 2005, 105:1195-1197.
58. Snyers B., Dahan K. Blau syndrome associated with a CARD15/NOD2 mutation. Am J Ophthalmol 2006, 14:1089-1092.
59. Milman N., Andersen C.B., Hansen A., van Overeem Hansen T., Nielsen F.C., Fledelius H., et al. Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. APMIS 2006, 114:912-919.
60. Rosé C.D., Wouters C.H., Meiorin S., Doyle T.M., Davey M.P., Rosenbaum J.T., et al. Pediatric granulomatous arthritis: an international registry. Arthritis Rheum 2006, 54:3337-3344.
61. Schaffer J.V., Chandra P., Keegan B.R., Heller P., Shin H.T. Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. Arch Dermatol 2007, 143:386-391.
62. Becker M.L., Martin T.M., Doyle T.M., Rosé C.D. Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. Arthritis Rheum 2007, 56:1292-1294.
63. Emaminia A., Nabavi M., Mousavi Nasab M., Kashef S. Central nervous system involvement in Blau syndrome: a new feature of the syndrome?. J Rheumatol 2007, 34:2504-2505.
64. Aróstegui J.I., Arnal C., Merino R., Modesto C., Antonia Carballo M., 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, 56:3805-3813.
65. Meiorin S.M., Espada G., Costa C.E., Tartara A., De Matteo E., Wouters C., et al. Granulomatous nephritis associated with R334Q mutation in NOD2. J Rheumatol 2007, 34:1945-1947.
66. Coto-Segura P., Mallo-Garcia S., Costa-Romero M., Arostegui J.I., Yague J., Ramos-Polo E., et al. A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. Br J Dermatol 2007, 157:1257-1259.
67. Blank N., Max R., Autschbach F., Libicher M., Lorenz H.M. Familial early onset sarcoidosis with bone cysts and erosions. Skeletal Radiol 2007, 36:891-893.
68. Dhondt V., Hofman S., Dahan K., Beele H. Leg ulcers: a new symptom of Blau syndrome?. Eur J Dermatol 2008, 18:635-637.
69. Okafuji I., Nishikomori R., Kanazawa N., Kambe N., Fujisawa A., Yamazaki S., et al. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum 2009, 60:242-250.
70. Milman N., Ursin K., Rødevand E., Nielsen F.C., Hansen T.V. 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.
71. Okada S., Konishi N., Tsumura M., Shirao K., Yasunaga S., Sakai H., et al. Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15. Rheumatology (Oxford) 2009, 48:706-707.
72. Rosé C.D., Aróstegui J.I., Martin T.M., Espada G., Scalzi L., Yagüe J., et al. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis Rheum 2009, 60:1797-1803.
73. Martin T.M., Zhang Z., Kurz P., Rosé C.D., Chen H., Lu H., et al. The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. Arthritis Rheum 2009, 60:611-618.
74. Saulsbury F.T., Wouters C.H., Martin T.M., Austin C.R., Doyle T.M., Goodwin K.A., et al. Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. Arthritis Rheum 2009, 60:1804-1806.
75. Villanueva-Mendoza C., Arellanes-García L., Cubas-Lorenzo V., Jimenez-Martinez M.C., Flores-Suárez L.F., Zenteno J.C. Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. Ophthalmic Genet 2010, 31:155-158.
76. Akil I., Ozguven A., Canda E., Yilmaz O., Nese N., Ozkol M., et al. Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. Pediatr Nephrol 2010, 25:977-981.
77. Stoevesandt J., Morbach H., Martin T.M., 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.
78. Son S., Lee J., Woo C.W., Kim I., Kye Y., Lee K., et al. Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. Rheumatol Int 2010, 30:1121-1124.
79. Sakai H., Ito S., Nishikomori R., Takaoka Y., Kawai T., Saito M., et al. A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene. Rheumatology (Oxford) 2010, 49:194-196.
80. Yasui K., Yashiro M., Tsuge M., Manki A., Takemoto K., Yamamoto M., et al. Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. Arthritis Rheum 2010, 62:250-257.
81. Martin J., Kodjikian L., Duquesne A., Le Scanff J., Sève P. Blau syndrome. QJM 2011, 104:997-998.
82. Raiji V.R., Miller M.M., Jung L.K. Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. J AAPOS 2011, 15:205-207.
83. Jimenez-Martinez M.C., Cruz F., Groman-Lupa S., Zenteno J.C. Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. Int J Immunogenet 2011, 38:233-242.
84. Caracseghi F., Izquierdo-Blasco J., Sanchez-Montanez A., Melendo-Perez S., Roig-Quilis M., Modesto C. Etanercept-induced myelopathy in a pediatric case of Blau syndrome. Case Rep Rheumatol 2011, 2011:134106.
85. Sharma S.M., Martin T.M., Rosé C.D., Dick A.D., Ramanan A.V. Distinguishing between the innate immune response due to ocular inflammation and infection in a child with juvenile systemic granulomatous disease treated with anti-TNF-α monoclonal antibodies. Rheumatology (Oxford) 2011, 50:990-992.
86. Simonini G., Taddio A., Cattalini M., Caputo R., De Libero C., Naviglio S., et al. Prevention of flare recurrences in childhood-refractory chronic uveitis: an open-label comparative study of adalimumab versus infliximab. Arthritis Care Res 2011, 63:612-618.
87. Xiang H., Zhang T., Chen M., Zhou X., Li Z., Yan N., et al. NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. Mol Vis 2012, 18:617-623.
88. Inoue Y., Kawaguchi Y., Shimojo N., Yamaguchi K., Morita Y., Nakano T., et al. A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?. Mod Rheumatol 2013, 23:837-839.
89. Khubchandani R.P., Hasija R., Touitou I., Khemani C., Wouters C.H., Rose C.D. Blau arteritis resembling Takayasu disease with a novel NOD2 mutation. J Rheumatol 2012, 39:1888-1892.
90. Jesus A.A., Fujihira E., Watase M., Terreri M.T., Hilario M.O., Carneiro-Sampaio M., et al. Hereditary autoinflammatory syndromes: a Brazilian multicenter study. J Clin Immunol 2012, 32:922-932.
91. Nishino T., Shinzato T., Ohta Y., Yamashita H., Obata Y., Shinzato K., et al. A case of acute kidney injury with marked hyperuricemia during mizoribine administration. Intern Med 2012, 51:1239-1243.
92. Bravo-Ljubetic L., Peralta-Calvo J., Noval S., Pastora-Salvador N., Abelairas-Gómez J., Merino R. Adalimumab therapy for refractory childhood uveitis. J AAPOS 2013, 17:456-459.
93. Amin S.R., Pulido J.S. Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. JAMA Ophthalmol 2013, 131:677-680.
94. Simonini G., Xu Z., Caputo R., De Libero C., Pagnini I., Pascual V., et al. Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. Arthritis Rheum 2013, 65:513-518.
95. Ikeda K., Kambe N., Satoh T., Matsue H., Nakajima H. Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. J Pediatr 2013, 163:1525.
96. Patel A.N., Khan M., Murphy R. A rare systemic granulomatous disorder. Clin Exp Dermatol 2013, 38:111-113.
97. Simonini G., Taddio A., Cattalini M., Caputo R., de Libero C., Parentin F., et al. Superior efficacy of adalimumab in treating childhood refractory chronic uveitis when used as first biologic modifier drug: adalimumab as starting anti-TNF-alpha therapy in childhood chronic uveitis. Pediatr Rheumatol Online J 2013, 11:16.
98. La Torre F., Lapadula G., Cantarini L., Lucherini O.M., Iannone F. Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature. Clin Rheumatol 2014, [Epub ahead of print].
99. Ikeda K., Kambe N., Takei S., Nakano T., Inoue Y., Tomiita M., et al. Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. Arthritis Res Ther 2014, 16:R89.
100. Carreno E., Guly C.M., Chilov M., Hinchcliffe A., Aróstegui J.I., Lee R.W., et al. A60: optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). Arthritis Rheumatol 2014, 66(Suppl. 11):S89.
101. Chauhan K., Michet C. A case of Blau syndrome. Case Rep Rheumatol 2014, 2014:216056.
102. Hoffmann A.L., Milman N., Byg K.E. Childhood sarcoidosis in Denmark 1979-1994: incidence, clinical features and laboratory results at presentation in 48 children. Acta Paediatr 2004, 93:30-36.
103. Heinle R., Chang C. Diagnostic criteria for sarcoidosis. Autoimmun Rev 2014, 13:383-387.
104. Jamilloux Y., Kodjikian L., Broussolle C., Sève P. Sarcoidosis and uveitis. Autoimmun Rev 2014, 13:840-849.
105. O'Brien L.E., Forsman P.J., Wiltse H.E. Early onset sarcoidosis with pulmonary function abnormalities. Chest 1974, 65:472-474.
106. Vitale A., Rigante D., Lucherini O.M., Caso F., Muscari I., Magnotti F., et al. Biological treatments: new weapons in the management of monogenic autoinflammatory disorders. Mediators Inflamm 2013, 2013:939847.
107. Pillai P., Sobrin L. Blau syndrome-associated uveitis and the NOD2 gene. Semin Ophthalmol 2013, 28:327-332.
108. Altschuler E.L., Kast R.E. Bupropion for Blau syndrome. Med Hypotheses 2004, 62:297-298.
109. Rigante D. The fresco of autoinflammatory diseases from the pediatric perspective. Autoimmun Rev 2012, 11:348-356.
110. Berkun Y., Eisenstein E.M. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev 2014, 13:388-390.
111. Caorsi R., Federici S., Gattorno M. Biologic drugs in autoinflammatory syndromes. Autoimmun Rev 2012, 12:81-86.
112. Maestroni S., Di Corato P.R., Cumetti D., Chiara D.B., Ghidoni S., Prisacaru L., et al. Recurrent pericarditis: autoimmune or autoinflammatory?. Autoimmun Rev 2012, 12:60-65.
113. Cantarini L., Lucherini O.M., Muscari I., Frediani B., Galeazzi M., Brizi M.G., et al. Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives. Autoimmun Rev 2012, 12:38-43.
114. Doria A., Dayer J.M., Punzi L. Autoinflammatory diseases: how to put the fire inside the body out?. Autoimmun Rev 2012, 12:1-4.
115. Soriano A., Manna R. Familial Mediterranean fever: new phenotypes. Autoimmun Rev 2012, 12:31-37.
116. Doria A., Zen M., Bettio S., Gatto M., Bassi N., Nalotto L., et al. Autoinflammation and autoimmunity: bridging the divide. Autoimmun Rev 2012, 12:22-30.
117. Muscari I., Iacoponi F., Cantarini L., Lucherini O.M., Simonini G., Brizi M.G., et al. The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. Autoimmun Rev 2012, 12:10-13.
118. Cantarini L., Imazio M., Brucato A., Lucherini O.M., Galeazzi M. Innate versus acquired immune response in the pathogenesis of recurrent idiopathic pericarditis. Autoimmun Rev 2010, 9:436-440.