Skip to main content
Top
Published in: Pediatric Rheumatology 1/2014

Open Access 01-12-2014 | Review

Blood gene expression profiling in pediatric systemic lupus erythematosus and systemic juvenile idiopathic arthritis: from bench to bedside

Authors: Mileka Gilbert, Marilynn Punaro

Published in: Pediatric Rheumatology | Issue 1/2014

Login to get access

Abstract

Blood gene expression profiling has led to major advances in the field of rheumatology over the last few decades. Specifically, DNA microarray technology has been integral in increasing our knowledge of key players in the pathogenesis of some rare pediatric rheumatic diseases. Our group, using microarray analysis, identified the interferon (IFN) gene signature in pediatric systemic lupus erythematosus (SLE) and has published data that suggest high doses of intravenous corticosteroid treatment may have benefit over strictly oral regimens. Additionally, DNA microarray technology led to our discovery that the interleukin (IL)-1 gene signature is associated with systemic juvenile idiopathic arthritis (sJIA) and to the use of IL-1 blockade with anakinra in this disease. We also reported the biologic rationale for use of anakinra early in the disease course. Anakinra is now being used as first-line treatment in sJIA in multiple centers. Herein, we review how information obtained from blood gene expression profiling has changed our clinical practice.
Appendix
Available only for authorised users
Literature
1.
go back to reference Brennan FM, Chantry D, Jackson A, Maini R, Feldmann M: Inhibitory effect of TNF alpha antibodies on synovial cell interleukin-1 production in rheumatoid arthritis. Lancet. 1989, 2: 244-247.CrossRefPubMed Brennan FM, Chantry D, Jackson A, Maini R, Feldmann M: Inhibitory effect of TNF alpha antibodies on synovial cell interleukin-1 production in rheumatoid arthritis. Lancet. 1989, 2: 244-247.CrossRefPubMed
2.
go back to reference Feldmann M, Maini RN: Anti-TNF alpha therapy of rheumatoid arthritis: what have we learned?. Annu Rev Immunol. 2001, 19: 163-196. 10.1146/annurev.immunol.19.1.163.CrossRefPubMed Feldmann M, Maini RN: Anti-TNF alpha therapy of rheumatoid arthritis: what have we learned?. Annu Rev Immunol. 2001, 19: 163-196. 10.1146/annurev.immunol.19.1.163.CrossRefPubMed
3.
go back to reference Maini RN, Feldmann M: The pitfalls in the development of biologic therapy. Nat Clin Pract Rheumatol. 2007, 3: 1-CrossRefPubMed Maini RN, Feldmann M: The pitfalls in the development of biologic therapy. Nat Clin Pract Rheumatol. 2007, 3: 1-CrossRefPubMed
4.
go back to reference Murphy G, Lisnevskaia L, Isenberg D: Systemic lupus erythematosus and other autoimmune rheumatic diseases: challenges to treatment. Lancet. 2013, 382: 809-818. 10.1016/S0140-6736(13)60889-2.CrossRefPubMed Murphy G, Lisnevskaia L, Isenberg D: Systemic lupus erythematosus and other autoimmune rheumatic diseases: challenges to treatment. Lancet. 2013, 382: 809-818. 10.1016/S0140-6736(13)60889-2.CrossRefPubMed
6.
go back to reference van Vollenhoven RF: Small molecular compounds in development for rheumatoid arthritis. Curr Opin Rheumatol. 2013, 25: 391-397. 10.1097/BOR.0b013e32835fd828.CrossRefPubMed van Vollenhoven RF: Small molecular compounds in development for rheumatoid arthritis. Curr Opin Rheumatol. 2013, 25: 391-397. 10.1097/BOR.0b013e32835fd828.CrossRefPubMed
7.
go back to reference Horneff G: Update on biologicals for treatment of juvenile idiopathic arthritis. Expert Opin Biol Ther. 2013, 13: 361-376. 10.1517/14712598.2013.735657.CrossRefPubMed Horneff G: Update on biologicals for treatment of juvenile idiopathic arthritis. Expert Opin Biol Ther. 2013, 13: 361-376. 10.1517/14712598.2013.735657.CrossRefPubMed
8.
go back to reference Schena M, Shalon D, Davis RW, Brown PO: Quantitative monitoring of gene expression patterns with a complementary DNA microarray. Science. 1995, 270: 467-470. 10.1126/science.270.5235.467.CrossRefPubMed Schena M, Shalon D, Davis RW, Brown PO: Quantitative monitoring of gene expression patterns with a complementary DNA microarray. Science. 1995, 270: 467-470. 10.1126/science.270.5235.467.CrossRefPubMed
9.
go back to reference Brown PO, Botstein D: Exploring the new world of the genome with DNA microarrays. Nat Genet. 1999, 21: 33-37.CrossRefPubMed Brown PO, Botstein D: Exploring the new world of the genome with DNA microarrays. Nat Genet. 1999, 21: 33-37.CrossRefPubMed
10.
go back to reference Bauer JW, Petri M, Batliwalla FM, Koeuth T, Wilson J, Slattery C, Panoskaltsis-Mortari A, Gregersen PK, Behrens TW, Baechler EC: Interferon-regulated chemokines as biomarkers of systemic lupus erythematosus disease activity: a validation study. Arthritis Rheum. 2009, 60: 3098-3107. 10.1002/art.24803.PubMedCentralCrossRefPubMed Bauer JW, Petri M, Batliwalla FM, Koeuth T, Wilson J, Slattery C, Panoskaltsis-Mortari A, Gregersen PK, Behrens TW, Baechler EC: Interferon-regulated chemokines as biomarkers of systemic lupus erythematosus disease activity: a validation study. Arthritis Rheum. 2009, 60: 3098-3107. 10.1002/art.24803.PubMedCentralCrossRefPubMed
11.
go back to reference Bauer JW, Bilgic H, Baechler EC: Gene-expression profiling in rheumatic disease: tools and therapeutic potential. Nat Rev Rheumatol. 2009, 5: 257-265. 10.1038/nrrheum.2009.50.CrossRefPubMed Bauer JW, Bilgic H, Baechler EC: Gene-expression profiling in rheumatic disease: tools and therapeutic potential. Nat Rev Rheumatol. 2009, 5: 257-265. 10.1038/nrrheum.2009.50.CrossRefPubMed
12.
go back to reference Bittner M, Meltzer P, Chen Y, Jiang Y, Seftor E, Hendrix M, Radmacher M, Simon R, Yakhini Z, Ben-Dor A, Sampas N, Dougherty E, Wang E, Marincola F, Gooden C, Lueders J, Glatfelter A, Pollock P, Carpten J, Gillanders E, Leja D, Dietrich K, Beaudry C, Berens M, Alberts D, Sondak V: Molecular classification of cutaneous malignant melanoma by gene expression profiling. Nature. 2000, 406: 536-540. 10.1038/35020115.CrossRefPubMed Bittner M, Meltzer P, Chen Y, Jiang Y, Seftor E, Hendrix M, Radmacher M, Simon R, Yakhini Z, Ben-Dor A, Sampas N, Dougherty E, Wang E, Marincola F, Gooden C, Lueders J, Glatfelter A, Pollock P, Carpten J, Gillanders E, Leja D, Dietrich K, Beaudry C, Berens M, Alberts D, Sondak V: Molecular classification of cutaneous malignant melanoma by gene expression profiling. Nature. 2000, 406: 536-540. 10.1038/35020115.CrossRefPubMed
13.
go back to reference Alizadeh AA, Eisen MB, Davis RE, Ma C, Lossos IS, Rosenwald A, Boldrick JC, Sabet H, Tran T, Yu X, Powell JI, Yang L, Marti GE, Moore T, Hudson J, Lu L, Lewis DB, Tibshirani R, Sherlock G, Chan WC, Greiner TC, Weisenburger DD, Armitage JO, Warnke R, Levy R, Wilson W, Grever MR, Byrd JC, Botstein D, Brown PO: Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature. 2000, 403: 503-511. 10.1038/35000501.CrossRefPubMed Alizadeh AA, Eisen MB, Davis RE, Ma C, Lossos IS, Rosenwald A, Boldrick JC, Sabet H, Tran T, Yu X, Powell JI, Yang L, Marti GE, Moore T, Hudson J, Lu L, Lewis DB, Tibshirani R, Sherlock G, Chan WC, Greiner TC, Weisenburger DD, Armitage JO, Warnke R, Levy R, Wilson W, Grever MR, Byrd JC, Botstein D, Brown PO: Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature. 2000, 403: 503-511. 10.1038/35000501.CrossRefPubMed
14.
go back to reference Staudt LM, Brown PO: Genomic views of the immune system*. Annu Rev Immunol. 2000, 18: 829-859. 10.1146/annurev.immunol.18.1.829.CrossRefPubMed Staudt LM, Brown PO: Genomic views of the immune system*. Annu Rev Immunol. 2000, 18: 829-859. 10.1146/annurev.immunol.18.1.829.CrossRefPubMed
15.
go back to reference Nielsen TO, West RB, Linn SC, Alter O, Knowling MA, O’Connell JX, Zhu S, Fero M, Sherlock G, Pollack JR, Brown PO, Botstein D, van de Rijn M: Molecular characterisation of soft tissue tumours: a gene expression study. Lancet. 2002, 359: 1301-1307. 10.1016/S0140-6736(02)08270-3.CrossRefPubMed Nielsen TO, West RB, Linn SC, Alter O, Knowling MA, O’Connell JX, Zhu S, Fero M, Sherlock G, Pollack JR, Brown PO, Botstein D, van de Rijn M: Molecular characterisation of soft tissue tumours: a gene expression study. Lancet. 2002, 359: 1301-1307. 10.1016/S0140-6736(02)08270-3.CrossRefPubMed
16.
go back to reference Bennett L, Palucka AK, Arce E, Cantrell V, Borvak J, Banchereau J, Pascual V: Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med. 2003, 197: 711-723. 10.1084/jem.20021553.PubMedCentralCrossRefPubMed Bennett L, Palucka AK, Arce E, Cantrell V, Borvak J, Banchereau J, Pascual V: Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med. 2003, 197: 711-723. 10.1084/jem.20021553.PubMedCentralCrossRefPubMed
17.
go back to reference Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW: Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A. 2003, 100: 2610-2615. 10.1073/pnas.0337679100.PubMedCentralCrossRefPubMed Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW: Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A. 2003, 100: 2610-2615. 10.1073/pnas.0337679100.PubMedCentralCrossRefPubMed
18.
go back to reference Crow MK, Kirou KA, Wohlgemuth J: Microarray analysis of interferon-regulated genes in SLE. Autoimmunity. 2003, 36: 481-490. 10.1080/08916930310001625952.CrossRefPubMed Crow MK, Kirou KA, Wohlgemuth J: Microarray analysis of interferon-regulated genes in SLE. Autoimmunity. 2003, 36: 481-490. 10.1080/08916930310001625952.CrossRefPubMed
19.
go back to reference Han GM, Chen SL, Shen N, Ye S, Bao CD, Gu YY: Analysis of gene expression profiles in human systemic lupus erythematosus using oligonucleotide microarray. Genes Immun. 2003, 4: 177-186. 10.1038/sj.gene.6363966.CrossRefPubMed Han GM, Chen SL, Shen N, Ye S, Bao CD, Gu YY: Analysis of gene expression profiles in human systemic lupus erythematosus using oligonucleotide microarray. Genes Immun. 2003, 4: 177-186. 10.1038/sj.gene.6363966.CrossRefPubMed
20.
go back to reference Preble OT, Black RJ, Friedman RM, Klippel JH, Vilcek J: Systemic lupus erythematosus: presence in human serum of an unusual acid-labile leukocyte interferon. Science. 1982, 216: 429-431. 10.1126/science.6176024.CrossRefPubMed Preble OT, Black RJ, Friedman RM, Klippel JH, Vilcek J: Systemic lupus erythematosus: presence in human serum of an unusual acid-labile leukocyte interferon. Science. 1982, 216: 429-431. 10.1126/science.6176024.CrossRefPubMed
21.
go back to reference Blanco P, Palucka AK, Gill M, Pascual V, Banchereau J: Induction of dendritic cell differentiation by IFN-alpha in systemic lupus erythematosus. Science. 2001, 294: 1540-1543. 10.1126/science.1064890.CrossRefPubMed Blanco P, Palucka AK, Gill M, Pascual V, Banchereau J: Induction of dendritic cell differentiation by IFN-alpha in systemic lupus erythematosus. Science. 2001, 294: 1540-1543. 10.1126/science.1064890.CrossRefPubMed
22.
go back to reference Banchereau J, Briere F, Caux C, Davoust J, Lebecque S, Liu YJ, Pulendran B, Palucka K: Immunobiology of dendritic cells. Annu Rev Immunol. 2000, 18: 767-811. 10.1146/annurev.immunol.18.1.767.CrossRefPubMed Banchereau J, Briere F, Caux C, Davoust J, Lebecque S, Liu YJ, Pulendran B, Palucka K: Immunobiology of dendritic cells. Annu Rev Immunol. 2000, 18: 767-811. 10.1146/annurev.immunol.18.1.767.CrossRefPubMed
23.
go back to reference Steinman RM, Turley S, Mellman I, Inaba K: The induction of tolerance by dendritic cells that have captured apoptotic cells. J Exp Med. 2000, 191: 411-416. 10.1084/jem.191.3.411.PubMedCentralCrossRefPubMed Steinman RM, Turley S, Mellman I, Inaba K: The induction of tolerance by dendritic cells that have captured apoptotic cells. J Exp Med. 2000, 191: 411-416. 10.1084/jem.191.3.411.PubMedCentralCrossRefPubMed
24.
go back to reference Vallin H, Perers A, Alm GV, Ronnblom L: Anti-double-stranded DNA antibodies and immunostimulatory plasmid DNA in combination mimic the endogenous IFN-alpha inducer in systemic lupus erythematosus. J Immunol. 1999, 163: 6306-6313.PubMed Vallin H, Perers A, Alm GV, Ronnblom L: Anti-double-stranded DNA antibodies and immunostimulatory plasmid DNA in combination mimic the endogenous IFN-alpha inducer in systemic lupus erythematosus. J Immunol. 1999, 163: 6306-6313.PubMed
25.
go back to reference Fah J, Pavlovic J, Burg G: Expression of MxA protein in inflammatory dermatoses. J Histochem Cytochem. 1995, 43: 47-52. 10.1177/43.1.7822763.CrossRefPubMed Fah J, Pavlovic J, Burg G: Expression of MxA protein in inflammatory dermatoses. J Histochem Cytochem. 1995, 43: 47-52. 10.1177/43.1.7822763.CrossRefPubMed
26.
go back to reference Farkas L, Beiske K, Lund-Johansen F, Brandtzaeg P, Jahnsen FL: Plasmacytoid dendritic cells (natural interferon- alpha/beta-producing cells) accumulate in cutaneous lupus erythematosus lesions. Am J Pathol. 2001, 159: 237-243. 10.1016/S0002-9440(10)61689-6.PubMedCentralCrossRefPubMed Farkas L, Beiske K, Lund-Johansen F, Brandtzaeg P, Jahnsen FL: Plasmacytoid dendritic cells (natural interferon- alpha/beta-producing cells) accumulate in cutaneous lupus erythematosus lesions. Am J Pathol. 2001, 159: 237-243. 10.1016/S0002-9440(10)61689-6.PubMedCentralCrossRefPubMed
27.
go back to reference Peterson KS, Huang JF, Zhu J, D’Agati V, Liu X, Miller N, Erlander MG, Jackson MR, Winchester RJ: Characterization of heterogeneity in the molecular pathogenesis of lupus nephritis from transcriptional profiles of laser-captured glomeruli. J Clin Invest. 2004, 113: 1722-1733. 10.1172/JCI200419139.PubMedCentralCrossRefPubMed Peterson KS, Huang JF, Zhu J, D’Agati V, Liu X, Miller N, Erlander MG, Jackson MR, Winchester RJ: Characterization of heterogeneity in the molecular pathogenesis of lupus nephritis from transcriptional profiles of laser-captured glomeruli. J Clin Invest. 2004, 113: 1722-1733. 10.1172/JCI200419139.PubMedCentralCrossRefPubMed
28.
go back to reference Stewart TA: Neutralizing interferon alpha as a therapeutic approach to autoimmune diseases. Cytokine Growth Factor Rev. 2003, 14: 139-154. 10.1016/S1359-6101(02)00088-6.CrossRefPubMed Stewart TA: Neutralizing interferon alpha as a therapeutic approach to autoimmune diseases. Cytokine Growth Factor Rev. 2003, 14: 139-154. 10.1016/S1359-6101(02)00088-6.CrossRefPubMed
29.
go back to reference Bronson PG, Chaivorapol C, Ortmann W, Behrens TW, Graham RR: The genetics of type I interferon in systemic lupus erythematosus. Curr Opin Immunol. 2012, 24: 530-537. 10.1016/j.coi.2012.07.008.CrossRefPubMed Bronson PG, Chaivorapol C, Ortmann W, Behrens TW, Graham RR: The genetics of type I interferon in systemic lupus erythematosus. Curr Opin Immunol. 2012, 24: 530-537. 10.1016/j.coi.2012.07.008.CrossRefPubMed
30.
go back to reference Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, Koskenmies S, Widen E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Ronnblom L, Syvanen AC: Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet. 2005, 76: 528-537. 10.1086/428480.PubMedCentralCrossRefPubMed Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, Koskenmies S, Widen E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Ronnblom L, Syvanen AC: Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet. 2005, 76: 528-537. 10.1086/428480.PubMedCentralCrossRefPubMed
31.
go back to reference Niewold TB, Kelly JA, Kariuki SN, Franek BS, Kumar AA, Kaufman KM, Thomas K, Walker D, Kamp S, Frost JM, Wong AK, Merrill JT, Alarcon-Riquelme ME, Tikly M, Ramsey-Goldman R, Reveille JD, Petri MA, Edberg JC, Kimberly RP, Alarcon GS, Kamen D, Gilkeson GS, Vyse TJ, James JA, Gaffney PM, Moser KL, Crow MK, Harley JB: IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis. 2012, 71: 463-468. 10.1136/annrheumdis-2011-200463.PubMedCentralCrossRefPubMed Niewold TB, Kelly JA, Kariuki SN, Franek BS, Kumar AA, Kaufman KM, Thomas K, Walker D, Kamp S, Frost JM, Wong AK, Merrill JT, Alarcon-Riquelme ME, Tikly M, Ramsey-Goldman R, Reveille JD, Petri MA, Edberg JC, Kimberly RP, Alarcon GS, Kamen D, Gilkeson GS, Vyse TJ, James JA, Gaffney PM, Moser KL, Crow MK, Harley JB: IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis. 2012, 71: 463-468. 10.1136/annrheumdis-2011-200463.PubMedCentralCrossRefPubMed
32.
go back to reference Leadbetter EA, Rifkin IR, Hohlbaum AM, Beaudette BC, Shlomchik MJ, Marshak-Rothstein A: Chromatin-IgG complexes activate B cells by dual engagement of IgM and toll-like receptors. Nature. 2002, 416: 603-607. 10.1038/416603a.CrossRefPubMed Leadbetter EA, Rifkin IR, Hohlbaum AM, Beaudette BC, Shlomchik MJ, Marshak-Rothstein A: Chromatin-IgG complexes activate B cells by dual engagement of IgM and toll-like receptors. Nature. 2002, 416: 603-607. 10.1038/416603a.CrossRefPubMed
33.
go back to reference Boule MW, Broughton C, Mackay F, Akira S, Marshak-Rothstein A, Rifkin IR: Toll-like receptor 9-dependent and -independent dendritic cell activation by chromatin-immunoglobulin G complexes. J Exp Med. 2004, 199: 1631-1640. 10.1084/jem.20031942.PubMedCentralCrossRefPubMed Boule MW, Broughton C, Mackay F, Akira S, Marshak-Rothstein A, Rifkin IR: Toll-like receptor 9-dependent and -independent dendritic cell activation by chromatin-immunoglobulin G complexes. J Exp Med. 2004, 199: 1631-1640. 10.1084/jem.20031942.PubMedCentralCrossRefPubMed
34.
go back to reference Lau CM, Broughton C, Tabor AS, Akira S, Flavell RA, Mamula MJ, Christensen SR, Shlomchik MJ, Viglianti GA, Rifkin IR, Marshak-Rothstein A: RNA-associated autoantigens activate B cells by combined B cell antigen receptor/toll-like receptor 7 engagement. J Exp Med. 2005, 202: 1171-1177. 10.1084/jem.20050630.PubMedCentralCrossRefPubMed Lau CM, Broughton C, Tabor AS, Akira S, Flavell RA, Mamula MJ, Christensen SR, Shlomchik MJ, Viglianti GA, Rifkin IR, Marshak-Rothstein A: RNA-associated autoantigens activate B cells by combined B cell antigen receptor/toll-like receptor 7 engagement. J Exp Med. 2005, 202: 1171-1177. 10.1084/jem.20050630.PubMedCentralCrossRefPubMed
35.
go back to reference Santiago-Raber ML, Baccala R, Haraldsson KM, Choubey D, Stewart TA, Kono DH, Theofilopoulos AN: Type-I interferon receptor deficiency reduces lupus-like disease in NZB mice. J Exp Med. 2003, 197: 777-788. 10.1084/jem.20021996.PubMedCentralCrossRefPubMed Santiago-Raber ML, Baccala R, Haraldsson KM, Choubey D, Stewart TA, Kono DH, Theofilopoulos AN: Type-I interferon receptor deficiency reduces lupus-like disease in NZB mice. J Exp Med. 2003, 197: 777-788. 10.1084/jem.20021996.PubMedCentralCrossRefPubMed
36.
go back to reference Jacob CO, Zhu J, Armstrong DL, Yan M, Han J, Zhou XJ, Thomas JA, Reiff A, Myones BL, Ojwang JO, Kaufman KM, Klein-Gitelman M, McCurdy D, Wagner-Weiner L, Silverman E, Ziegler J, Kelly JA, Merill JT, Harley JB, Ramsey-Goldman R, Vila LM, Bae SC, Vyse TJ, Gilkeson GS, Gaffney PM, Moser KL, Langefeld CD, Zidovetzki R, Mohan C: Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci U S A. 2009, 106: 6256-6261. 10.1073/pnas.0901181106.PubMedCentralCrossRefPubMed Jacob CO, Zhu J, Armstrong DL, Yan M, Han J, Zhou XJ, Thomas JA, Reiff A, Myones BL, Ojwang JO, Kaufman KM, Klein-Gitelman M, McCurdy D, Wagner-Weiner L, Silverman E, Ziegler J, Kelly JA, Merill JT, Harley JB, Ramsey-Goldman R, Vila LM, Bae SC, Vyse TJ, Gilkeson GS, Gaffney PM, Moser KL, Langefeld CD, Zidovetzki R, Mohan C: Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci U S A. 2009, 106: 6256-6261. 10.1073/pnas.0901181106.PubMedCentralCrossRefPubMed
37.
go back to reference Crampton SP, Deane JA, Feigenbaum L, Bolland S: Ifih1 gene dose effect reveals MDA5-mediated chronic type I IFN gene signature, viral resistance, and accelerated autoimmunity. J Immunol. 2012, 188: 1451-1459. 10.4049/jimmunol.1102705.PubMedCentralCrossRefPubMed Crampton SP, Deane JA, Feigenbaum L, Bolland S: Ifih1 gene dose effect reveals MDA5-mediated chronic type I IFN gene signature, viral resistance, and accelerated autoimmunity. J Immunol. 2012, 188: 1451-1459. 10.4049/jimmunol.1102705.PubMedCentralCrossRefPubMed
38.
go back to reference Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F: Complement in human diseases: lessons from complement deficiencies. Mol Immunol. 2009, 46: 2774-2783. 10.1016/j.molimm.2009.04.029.CrossRefPubMed Botto M, Kirschfink M, Macor P, Pickering MC, Wurzner R, Tedesco F: Complement in human diseases: lessons from complement deficiencies. Mol Immunol. 2009, 46: 2774-2783. 10.1016/j.molimm.2009.04.029.CrossRefPubMed
39.
go back to reference Botto M, Walport MJ: C1q, autoimmunity and apoptosis. Immunobiology. 2002, 205: 395-406. 10.1078/0171-2985-00141.CrossRefPubMed Botto M, Walport MJ: C1q, autoimmunity and apoptosis. Immunobiology. 2002, 205: 395-406. 10.1078/0171-2985-00141.CrossRefPubMed
40.
go back to reference Santer DM, Hall BE, George TC, Tangsombatvisit S, Liu CL, Arkwright PD, Elkon KB: C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes. J Immunol. 2010, 185: 4738-4749. 10.4049/jimmunol.1001731.PubMedCentralCrossRefPubMed Santer DM, Hall BE, George TC, Tangsombatvisit S, Liu CL, Arkwright PD, Elkon KB: C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes. J Immunol. 2010, 185: 4738-4749. 10.4049/jimmunol.1001731.PubMedCentralCrossRefPubMed
41.
go back to reference Napirei M, Karsunky H, Zevnik B, Stephan H, Mannherz HG, Moroy T: Features of systemic lupus erythematosus in Dnase1-deficient mice. Nat Genet. 2000, 25: 177-181. 10.1038/76032.CrossRefPubMed Napirei M, Karsunky H, Zevnik B, Stephan H, Mannherz HG, Moroy T: Features of systemic lupus erythematosus in Dnase1-deficient mice. Nat Genet. 2000, 25: 177-181. 10.1038/76032.CrossRefPubMed
42.
go back to reference Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y: Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001, 28: 313-314. 10.1038/91070.CrossRefPubMed Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y: Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001, 28: 313-314. 10.1038/91070.CrossRefPubMed
43.
go back to reference Crow YJ, Rehwinkel J: Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009, 18: R130-R136. 10.1093/hmg/ddp293.PubMedCentralCrossRefPubMed Crow YJ, Rehwinkel J: Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009, 18: R130-R136. 10.1093/hmg/ddp293.PubMedCentralCrossRefPubMed
44.
go back to reference Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W: Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet. 2012, 44: 1243-1248. 10.1038/ng.2414.PubMedCentralCrossRefPubMed Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W: Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet. 2012, 44: 1243-1248. 10.1038/ng.2414.PubMedCentralCrossRefPubMed
45.
go back to reference Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemar C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W: Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study. Lancet Neurol. 2013, 12: 1159-1169. 10.1016/S1474-4422(13)70258-8.PubMedCentralCrossRefPubMed Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemar C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W: Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study. Lancet Neurol. 2013, 12: 1159-1169. 10.1016/S1474-4422(13)70258-8.PubMedCentralCrossRefPubMed
46.
go back to reference Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N: Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007, 39: 1065-1067. 10.1038/ng2091.CrossRefPubMed Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N: Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007, 39: 1065-1067. 10.1038/ng2091.CrossRefPubMed
47.
go back to reference Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O’Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ: Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007, 80: 811-815. 10.1086/513443.PubMedCentralCrossRefPubMed Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O’Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ: Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007, 80: 811-815. 10.1086/513443.PubMedCentralCrossRefPubMed
48.
go back to reference Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A: Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011, 43: 132-137. 10.1038/ng.749.CrossRefPubMed Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A: Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011, 43: 132-137. 10.1038/ng.749.CrossRefPubMed
49.
go back to reference Shinohara ML, Lu L, Bu J, Werneck MB, Kobayashi KS, Glimcher LH, Cantor H: Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells. Nat Immunol. 2006, 7: 498-506. 10.1038/ni1327.PubMedCentralCrossRefPubMed Shinohara ML, Lu L, Bu J, Werneck MB, Kobayashi KS, Glimcher LH, Cantor H: Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells. Nat Immunol. 2006, 7: 498-506. 10.1038/ni1327.PubMedCentralCrossRefPubMed
50.
go back to reference Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Frances C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Burgi S: Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011, 43: 127-131. 10.1038/ng.748.CrossRefPubMed Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Frances C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Burgi S: Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011, 43: 127-131. 10.1038/ng.748.CrossRefPubMed
51.
go back to reference Morimoto AM, Flesher DT, Yang J, Wolslegel K, Wang X, Brady A, Abbas AR, Quarmby V, Wakshull E, Richardson B, Townsend MJ, Behrens TW: Association of endogenous anti-interferon-alpha autoantibodies with decreased interferon-pathway and disease activity in patients with systemic lupus erythematosus. Arthritis Rheum. 2011, 63: 2407-2415. 10.1002/art.30399.PubMedCentralCrossRefPubMed Morimoto AM, Flesher DT, Yang J, Wolslegel K, Wang X, Brady A, Abbas AR, Quarmby V, Wakshull E, Richardson B, Townsend MJ, Behrens TW: Association of endogenous anti-interferon-alpha autoantibodies with decreased interferon-pathway and disease activity in patients with systemic lupus erythematosus. Arthritis Rheum. 2011, 63: 2407-2415. 10.1002/art.30399.PubMedCentralCrossRefPubMed
52.
go back to reference Lauwerys BR, Ducreux J, Houssiau FA: Type I interferon blockade in systemic lupus erythematosus: where do we stand?. Rheumatology (Oxford). 2013, doi:10.1093/rheumatology/ket403 Lauwerys BR, Ducreux J, Houssiau FA: Type I interferon blockade in systemic lupus erythematosus: where do we stand?. Rheumatology (Oxford). 2013, doi:10.1093/rheumatology/ket403
53.
go back to reference Hotta O, Oda T, Taguma Y, Kitamura H, Chiba S, Miyazawa S, Nagura H: Role of neutrophil elastase in the development of renal necrotizing vasculitis. Clin Nephrol. 1996, 45: 211-216.PubMed Hotta O, Oda T, Taguma Y, Kitamura H, Chiba S, Miyazawa S, Nagura H: Role of neutrophil elastase in the development of renal necrotizing vasculitis. Clin Nephrol. 1996, 45: 211-216.PubMed
54.
go back to reference Qasim FJ, Mathieson PW, Sendo F, Thiru S, Oliveira DB: Role of neutrophils in the pathogenesis of experimental vasculitis. Am J Pathol. 1996, 149: 81-89.PubMedCentralPubMed Qasim FJ, Mathieson PW, Sendo F, Thiru S, Oliveira DB: Role of neutrophils in the pathogenesis of experimental vasculitis. Am J Pathol. 1996, 149: 81-89.PubMedCentralPubMed
55.
go back to reference Austin HA, Boumpas DT, Vaughan EM, Balow JE: Predicting renal outcomes in severe lupus nephritis: contributions of clinical and histologic data. Kidney Int. 1994, 45: 544-550. 10.1038/ki.1994.70.CrossRefPubMed Austin HA, Boumpas DT, Vaughan EM, Balow JE: Predicting renal outcomes in severe lupus nephritis: contributions of clinical and histologic data. Kidney Int. 1994, 45: 544-550. 10.1038/ki.1994.70.CrossRefPubMed
56.
go back to reference Brunner HI, Mueller M, Rutherford C, Passo MH, Witte D, Grom A, Mishra J, Devarajan P: Urinary neutrophil gelatinase-associated lipocalin as a biomarker of nephritis in childhood-onset systemic lupus erythematosus. Arthritis Rheum. 2006, 54: 2577-2584. 10.1002/art.22008.CrossRefPubMed Brunner HI, Mueller M, Rutherford C, Passo MH, Witte D, Grom A, Mishra J, Devarajan P: Urinary neutrophil gelatinase-associated lipocalin as a biomarker of nephritis in childhood-onset systemic lupus erythematosus. Arthritis Rheum. 2006, 54: 2577-2584. 10.1002/art.22008.CrossRefPubMed
57.
go back to reference Vasiliu IM, Petri MA, Baer AN: Therapy with granulocyte colony-stimulating factor in systemic lupus erythematosus may be associated with severe flares. J Rheumatol. 2006, 33: 1878-1880.PubMed Vasiliu IM, Petri MA, Baer AN: Therapy with granulocyte colony-stimulating factor in systemic lupus erythematosus may be associated with severe flares. J Rheumatol. 2006, 33: 1878-1880.PubMed
58.
go back to reference Garcia-Romo GS, Caielli S, Vega B, Connolly J, Allantaz F, Xu Z, Punaro M, Baisch J, Guiducci C, Coffman RL, Barrat FJ, Banchereau J, Pascual V: Netting neutrophils are major inducers of type I IFN production in pediatric systemic lupus erythematosus. Sci Transl Med. 2011, 3: 73ra20-PubMedCentralCrossRefPubMed Garcia-Romo GS, Caielli S, Vega B, Connolly J, Allantaz F, Xu Z, Punaro M, Baisch J, Guiducci C, Coffman RL, Barrat FJ, Banchereau J, Pascual V: Netting neutrophils are major inducers of type I IFN production in pediatric systemic lupus erythematosus. Sci Transl Med. 2011, 3: 73ra20-PubMedCentralCrossRefPubMed
59.
go back to reference Guiducci C, Gong M, Xu Z, Gill M, Chaussabel D, Meeker T, Chan JH, Wright T, Punaro M, Bolland S, Soumelis V, Banchereau J, Coffman RL, Pascual V, Barrat FJ: TLR recognition of self nucleic acids hampers glucocorticoid activity in lupus. Nature. 2010, 465: 937-941. 10.1038/nature09102.PubMedCentralCrossRefPubMed Guiducci C, Gong M, Xu Z, Gill M, Chaussabel D, Meeker T, Chan JH, Wright T, Punaro M, Bolland S, Soumelis V, Banchereau J, Coffman RL, Pascual V, Barrat FJ: TLR recognition of self nucleic acids hampers glucocorticoid activity in lupus. Nature. 2010, 465: 937-941. 10.1038/nature09102.PubMedCentralCrossRefPubMed
60.
go back to reference Shodell M, Shah K, Siegal FP: Circulating human plasmacytoid dendritic cells are highly sensitive to corticosteroid administration. Lupus. 2003, 12: 222-230. 10.1191/0961203303lu362xx.CrossRefPubMed Shodell M, Shah K, Siegal FP: Circulating human plasmacytoid dendritic cells are highly sensitive to corticosteroid administration. Lupus. 2003, 12: 222-230. 10.1191/0961203303lu362xx.CrossRefPubMed
61.
go back to reference Boor PP, Metselaar HJ, Mancham S, Tilanus HW, Kusters JG, Kwekkeboom J: Prednisolone suppresses the function and promotes apoptosis of plasmacytoid dendritic cells. Am J Transplant. 2006, 6: 2332-2341. 10.1111/j.1600-6143.2006.01476.x.CrossRefPubMed Boor PP, Metselaar HJ, Mancham S, Tilanus HW, Kusters JG, Kwekkeboom J: Prednisolone suppresses the function and promotes apoptosis of plasmacytoid dendritic cells. Am J Transplant. 2006, 6: 2332-2341. 10.1111/j.1600-6143.2006.01476.x.CrossRefPubMed
62.
go back to reference Mina R, von Scheven E, Ardoin SP, Eberhard BA, Punaro M, Ilowite N, Hsu J, Klein-Gitelman M, Moorthy LN, Muscal E, Radhakrishna SM, Wagner-Weiner L, Adams M, Blier P, Buckley L, Chalom E, Chedeville G, Eichenfield A, Fish N, Henrickson M, Hersh AO, Hollister R, Jones O, Jung L, Levy D, Lopez-Benitez J, McCurdy D, Miettunen PM, Quintero-del Rio AI, Rothman D: Consensus treatment plans for induction therapy of newly diagnosed proliferative lupus nephritis in juvenile systemic lupus erythematosus. Arthritis Care Res (Hoboken). 2012, 64: 375-383. 10.1002/acr.21558.CrossRef Mina R, von Scheven E, Ardoin SP, Eberhard BA, Punaro M, Ilowite N, Hsu J, Klein-Gitelman M, Moorthy LN, Muscal E, Radhakrishna SM, Wagner-Weiner L, Adams M, Blier P, Buckley L, Chalom E, Chedeville G, Eichenfield A, Fish N, Henrickson M, Hersh AO, Hollister R, Jones O, Jung L, Levy D, Lopez-Benitez J, McCurdy D, Miettunen PM, Quintero-del Rio AI, Rothman D: Consensus treatment plans for induction therapy of newly diagnosed proliferative lupus nephritis in juvenile systemic lupus erythematosus. Arthritis Care Res (Hoboken). 2012, 64: 375-383. 10.1002/acr.21558.CrossRef
63.
go back to reference Wallace CA, Levinson JE: Juvenile rheumatoid arthritis: outcome and treatment for the 1990s. Rheum Dis Clin North Am. 1991, 17: 891-905.PubMed Wallace CA, Levinson JE: Juvenile rheumatoid arthritis: outcome and treatment for the 1990s. Rheum Dis Clin North Am. 1991, 17: 891-905.PubMed
64.
go back to reference Lomater C, Gerloni V, Gattinara M, Mazzotti J, Cimaz R, Fantini F: Systemic onset juvenile idiopathic arthritis: a retrospective study of 80 consecutive patients followed for 10 years. J Rheumatol. 2000, 27: 491-496.PubMed Lomater C, Gerloni V, Gattinara M, Mazzotti J, Cimaz R, Fantini F: Systemic onset juvenile idiopathic arthritis: a retrospective study of 80 consecutive patients followed for 10 years. J Rheumatol. 2000, 27: 491-496.PubMed
65.
go back to reference Bowyer SL, Roettcher PA, Higgins GC, Adams B, Myers LK, Wallace C, Rennebohm R, Moore TL, Pepmueller PH, Spencer C, Wagner-Weiner L, Rabinovich E, Passo M, Lovell DJ, McCurdy D, Zemel L, Schikler KN, Szer I, Kurtin P, Lindsley C: Health status of patients with juvenile rheumatoid arthritis at 1 and 5 years after diagnosis. J Rheumatol. 2003, 30: 394-400.PubMed Bowyer SL, Roettcher PA, Higgins GC, Adams B, Myers LK, Wallace C, Rennebohm R, Moore TL, Pepmueller PH, Spencer C, Wagner-Weiner L, Rabinovich E, Passo M, Lovell DJ, McCurdy D, Zemel L, Schikler KN, Szer I, Kurtin P, Lindsley C: Health status of patients with juvenile rheumatoid arthritis at 1 and 5 years after diagnosis. J Rheumatol. 2003, 30: 394-400.PubMed
66.
go back to reference Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J: Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med. 2005, 201: 1479-1486. 10.1084/jem.20050473.PubMedCentralCrossRefPubMed Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J: Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med. 2005, 201: 1479-1486. 10.1084/jem.20050473.PubMedCentralCrossRefPubMed
67.
go back to reference Opal SM, Fisher CJ, Dhainaut JF, Vincent JL, Brase R, Lowry SF, Sadoff JC, Slotman GJ, Levy H, Balk RA, Shelly MP, Pribble JP, LaBrecque JF, Lookabaugh J, Donovan H, Dubin H, Baughman R, Norman J, DeMaria E, Matzel K, Abraham E, Seneff M: Confirmatory interleukin-1 receptor antagonist trial in severe sepsis: a phase III, randomized, double-blind, placebo-controlled, multicenter trial. The interleukin-1 receptor antagonist sepsis investigator group. Crit Care Med. 1997, 25: 1115-1124. 10.1097/00003246-199707000-00010.CrossRefPubMed Opal SM, Fisher CJ, Dhainaut JF, Vincent JL, Brase R, Lowry SF, Sadoff JC, Slotman GJ, Levy H, Balk RA, Shelly MP, Pribble JP, LaBrecque JF, Lookabaugh J, Donovan H, Dubin H, Baughman R, Norman J, DeMaria E, Matzel K, Abraham E, Seneff M: Confirmatory interleukin-1 receptor antagonist trial in severe sepsis: a phase III, randomized, double-blind, placebo-controlled, multicenter trial. The interleukin-1 receptor antagonist sepsis investigator group. Crit Care Med. 1997, 25: 1115-1124. 10.1097/00003246-199707000-00010.CrossRefPubMed
68.
go back to reference Fisher CJ, Dhainaut JF, Opal SM, Pribble JP, Balk RA, Slotman GJ, Iberti TJ, Rackow EC, Shapiro MJ, Greenman RL, Reines HD, Shelly MP, Thompson BW, LaBrecque JF, Catalano MA, Knaus WA, Sadoff JC, Astiz M, Carpati C, Bone RC, Friedman B, Mure AJ, Brathwaite C, Shapiro E, Melhorn L, Taylor R, Keegan M, O’Brien J, Schein R, Pena M: Recombinant human interleukin 1 receptor antagonist in the treatment of patients with sepsis syndrome. Results from a randomized, double-blind, placebo-controlled trial. Phase III rhIL-1ra sepsis syndrome study group. JAMA. 1994, 271: 1836-1843. 10.1001/jama.1994.03510470040032.CrossRefPubMed Fisher CJ, Dhainaut JF, Opal SM, Pribble JP, Balk RA, Slotman GJ, Iberti TJ, Rackow EC, Shapiro MJ, Greenman RL, Reines HD, Shelly MP, Thompson BW, LaBrecque JF, Catalano MA, Knaus WA, Sadoff JC, Astiz M, Carpati C, Bone RC, Friedman B, Mure AJ, Brathwaite C, Shapiro E, Melhorn L, Taylor R, Keegan M, O’Brien J, Schein R, Pena M: Recombinant human interleukin 1 receptor antagonist in the treatment of patients with sepsis syndrome. Results from a randomized, double-blind, placebo-controlled trial. Phase III rhIL-1ra sepsis syndrome study group. JAMA. 1994, 271: 1836-1843. 10.1001/jama.1994.03510470040032.CrossRefPubMed
69.
go back to reference Fleischmann RM: Addressing the safety of anakinra in patients with rheumatoid arthritis. Rheumatology (Oxford). 2003, 35 (Suppl 2): ii29-ii35. Fleischmann RM: Addressing the safety of anakinra in patients with rheumatoid arthritis. Rheumatology (Oxford). 2003, 35 (Suppl 2): ii29-ii35.
70.
go back to reference Verbsky JW, White AJ: Effective use of the recombinant interleukin 1 receptor antagonist anakinra in therapy resistant systemic onset juvenile rheumatoid arthritis. J Rheumatol. 2004, 31: 2071-2075.PubMed Verbsky JW, White AJ: Effective use of the recombinant interleukin 1 receptor antagonist anakinra in therapy resistant systemic onset juvenile rheumatoid arthritis. J Rheumatol. 2004, 31: 2071-2075.PubMed
71.
go back to reference Gattorno M, Piccini A, Lasiglie D, Tassi S, Brisca G, Carta S, Delfino L, Ferlito F, Pelagatti MA, Caroli F, Buoncompagni A, Viola S, Loy A, Sironi M, Vecchi A, Ravelli A, Martini A, Rubartelli A: The pattern of response to anti-interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritis. Arthritis Rheum. 2008, 58: 1505-1515. 10.1002/art.23437.CrossRefPubMed Gattorno M, Piccini A, Lasiglie D, Tassi S, Brisca G, Carta S, Delfino L, Ferlito F, Pelagatti MA, Caroli F, Buoncompagni A, Viola S, Loy A, Sironi M, Vecchi A, Ravelli A, Martini A, Rubartelli A: The pattern of response to anti-interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritis. Arthritis Rheum. 2008, 58: 1505-1515. 10.1002/art.23437.CrossRefPubMed
72.
go back to reference Zeft A, Hollister R, LaFleur B, Sampath P, Soep J, McNally B, Kunkel G, Schlesinger M, Bohnsack J: Anakinra for systemic juvenile arthritis: the Rocky Mountain experience. J Clin Rheumatol. 2009, 15: 161-164. 10.1097/RHU.0b013e3181a4f459.CrossRefPubMed Zeft A, Hollister R, LaFleur B, Sampath P, Soep J, McNally B, Kunkel G, Schlesinger M, Bohnsack J: Anakinra for systemic juvenile arthritis: the Rocky Mountain experience. J Clin Rheumatol. 2009, 15: 161-164. 10.1097/RHU.0b013e3181a4f459.CrossRefPubMed
73.
go back to reference Ilowite N, Porras O, Reiff A, Rudge S, Punaro M, Martin A, Allen R, Harville T, Sun YN, Bevirt T, Aras G, Appleton B: Anakinra in the treatment of polyarticular-course juvenile rheumatoid arthritis: safety and preliminary efficacy results of a randomized multicenter study. Clin Rheumatol. 2009, 28: 129-137. 10.1007/s10067-008-0995-9.CrossRefPubMed Ilowite N, Porras O, Reiff A, Rudge S, Punaro M, Martin A, Allen R, Harville T, Sun YN, Bevirt T, Aras G, Appleton B: Anakinra in the treatment of polyarticular-course juvenile rheumatoid arthritis: safety and preliminary efficacy results of a randomized multicenter study. Clin Rheumatol. 2009, 28: 129-137. 10.1007/s10067-008-0995-9.CrossRefPubMed
74.
go back to reference Allantaz F, Chaussabel D, Stichweh D, Bennett L, Allman W, Mejias A, Ardura M, Chung W, Smith E, Wise C, Palucka K, Ramilo O, Punaro M, Banchereau J, Pascual V: Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade. J Exp Med. 2007, 204: 2131-2144. 10.1084/jem.20070070.PubMedCentralCrossRefPubMed Allantaz F, Chaussabel D, Stichweh D, Bennett L, Allman W, Mejias A, Ardura M, Chung W, Smith E, Wise C, Palucka K, Ramilo O, Punaro M, Banchereau J, Pascual V: Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade. J Exp Med. 2007, 204: 2131-2144. 10.1084/jem.20070070.PubMedCentralCrossRefPubMed
75.
go back to reference Quartier P, Allantaz F, Cimaz R, Pillet P, Messiaen C, Bardin C, Bossuyt X, Boutten A, Bienvenu J, Duquesne A, Richer O, Chaussabel D, Mogenet A, Banchereau J, Treluyer JM, Landais P, Pascual V: A multicentre, randomised, double-blind, placebo-controlled trial with the interleukin-1 receptor antagonist anakinra in patients with systemic-onset juvenile idiopathic arthritis (ANAJIS trial). Ann Rheum Dis. 2011, 70: 747-754. 10.1136/ard.2010.134254.PubMedCentralCrossRefPubMed Quartier P, Allantaz F, Cimaz R, Pillet P, Messiaen C, Bardin C, Bossuyt X, Boutten A, Bienvenu J, Duquesne A, Richer O, Chaussabel D, Mogenet A, Banchereau J, Treluyer JM, Landais P, Pascual V: A multicentre, randomised, double-blind, placebo-controlled trial with the interleukin-1 receptor antagonist anakinra in patients with systemic-onset juvenile idiopathic arthritis (ANAJIS trial). Ann Rheum Dis. 2011, 70: 747-754. 10.1136/ard.2010.134254.PubMedCentralCrossRefPubMed
76.
go back to reference Nigrovic PA, Mannion M, Prince FH, Zeft A, Rabinovich CE, van Rossum MA, Cortis E, Pardeo M, Miettunen PM, Janow G, Birmingham J, Eggebeen A, Janssen E, Shulman AI, Son MB, Hong S, Jones K, Ilowite NT, Cron RQ, Higgins GC: Anakinra as first-line disease-modifying therapy in systemic juvenile idiopathic arthritis: report of forty-six patients from an international multicenter series. Arthritis Rheum. 2011, 63: 545-555. 10.1002/art.30128.CrossRefPubMed Nigrovic PA, Mannion M, Prince FH, Zeft A, Rabinovich CE, van Rossum MA, Cortis E, Pardeo M, Miettunen PM, Janow G, Birmingham J, Eggebeen A, Janssen E, Shulman AI, Son MB, Hong S, Jones K, Ilowite NT, Cron RQ, Higgins GC: Anakinra as first-line disease-modifying therapy in systemic juvenile idiopathic arthritis: report of forty-six patients from an international multicenter series. Arthritis Rheum. 2011, 63: 545-555. 10.1002/art.30128.CrossRefPubMed
77.
go back to reference Vastert SJ, de Jager W, Noordman BJ, Holzinger D, Kuis W, Prakken BJ, Wulffraat NM: Effectiveness of first line use of recombinant IL-1RA treatment in steroid naive systemic juvenile idiopathic arthritis: results of a prospective cohort study. Arthritis Rheum. 2013, doi:10.1002/art.38296 Vastert SJ, de Jager W, Noordman BJ, Holzinger D, Kuis W, Prakken BJ, Wulffraat NM: Effectiveness of first line use of recombinant IL-1RA treatment in steroid naive systemic juvenile idiopathic arthritis: results of a prospective cohort study. Arthritis Rheum. 2013, doi:10.1002/art.38296
78.
go back to reference DeWitt EM, Kimura Y, Beukelman T, Nigrovic PA, Onel K, Prahalad S, Schneider R, Stoll ML, Angeles-Han S, Milojevic D, Schikler KN, Vehe RK, Weiss JE, Weiss P, Ilowite NT, Wallace CA: Consensus treatment plans for new-onset systemic juvenile idiopathic arthritis. Arthritis Care Res (Hoboken). 2012, 64: 1001-1010. DeWitt EM, Kimura Y, Beukelman T, Nigrovic PA, Onel K, Prahalad S, Schneider R, Stoll ML, Angeles-Han S, Milojevic D, Schikler KN, Vehe RK, Weiss JE, Weiss P, Ilowite NT, Wallace CA: Consensus treatment plans for new-onset systemic juvenile idiopathic arthritis. Arthritis Care Res (Hoboken). 2012, 64: 1001-1010.
79.
go back to reference Ruperto N, Brunner HI, Quartier P, Constantin T, Wulffraat N, Horneff G, Brik R, McCann L, Kasapcopur O, Rutkowska-Sak L, Schneider R, Berkun Y, Calvo I, Erguven M, Goffin L, Hofer M, Kallinich T, Oliveria SK, Uziel Y, Viola S, Nistala K, Wouters C, Cimaz R, Ferrandiz MA, Flato B, Gamir ML, Kone-Paut I, Grom A, Magnusson B, Ozen S: Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med. 2012, 367: 2396-2406. 10.1056/NEJMoa1205099.CrossRefPubMed Ruperto N, Brunner HI, Quartier P, Constantin T, Wulffraat N, Horneff G, Brik R, McCann L, Kasapcopur O, Rutkowska-Sak L, Schneider R, Berkun Y, Calvo I, Erguven M, Goffin L, Hofer M, Kallinich T, Oliveria SK, Uziel Y, Viola S, Nistala K, Wouters C, Cimaz R, Ferrandiz MA, Flato B, Gamir ML, Kone-Paut I, Grom A, Magnusson B, Ozen S: Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med. 2012, 367: 2396-2406. 10.1056/NEJMoa1205099.CrossRefPubMed
80.
go back to reference Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH: Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014, 370: 911-920. 10.1056/NEJMoa1307361.PubMedCentralCrossRefPubMed Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH: Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014, 370: 911-920. 10.1056/NEJMoa1307361.PubMedCentralCrossRefPubMed
81.
go back to reference Bauer JW, Baechler EC, Petri M, Batliwalla FM, Crawford D, Ortmann WA, Espe KJ, Li W, Patel DD, Gregersen PK, Behrens TW: Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus. PLoS Med. 2006, 3: e491-10.1371/journal.pmed.0030491.PubMedCentralCrossRefPubMed Bauer JW, Baechler EC, Petri M, Batliwalla FM, Crawford D, Ortmann WA, Espe KJ, Li W, Patel DD, Gregersen PK, Behrens TW: Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus. PLoS Med. 2006, 3: e491-10.1371/journal.pmed.0030491.PubMedCentralCrossRefPubMed
Metadata
Title
Blood gene expression profiling in pediatric systemic lupus erythematosus and systemic juvenile idiopathic arthritis: from bench to bedside
Authors
Mileka Gilbert
Marilynn Punaro
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue 1/2014
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-12-16

Other articles of this Issue 1/2014

Pediatric Rheumatology 1/2014 Go to the issue