Top

Published in:

Open Access 01-12-2016 | Review

Type I interferonopathies in pediatric rheumatology

Authors: Stefano Volpi, Paolo Picco, Roberta Caorsi, Fabio Candotti, Marco Gattorno

Published in: Pediatric Rheumatology | Issue 1/2016

Abstract

Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy.

Crow YJ. Type I, interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011;1238:91–8. doi:10.1111/j.1749-6632.2011.06220.x.PubMedCrossRef

Isaacs A, Lindenmann J. Virus interference. I. The interferon. Proc R Soc Lond B Biol Sci. 1957;147(927):258–67.PubMedCrossRef

Cavlar T, Ablasser A, Hornung V. Induction of type I IFNs by intracellular DNA-sensing pathways. Immunol Cell Biol. 2012;90(5):474–82. doi:10.1038/icb.2012.11.PubMedCrossRef

McGlasson S, Jury A, Jackson A, Hunt D. Type I interferon dysregulation and neurological disease. Nat Rev Neurol. 2015;11(9):515–23. doi:10.1038/nrneurol.2015.143.PubMedCrossRef

Wu J, Sun L, Chen X, Du F, Shi H, Chen C, et al. Cyclic GMP-AMP is an endogenous second messenger in innate immune signaling by cytosolic DNA. Science. 2013;339(6121):826–30. doi:10.1126/science.1229963.PubMedCrossRef

Dobbs N, Burnaevskiy N, Chen D, Gonugunta VK, Alto NM, Yan N. STING activation by translocation from the ER is associated with infection and autoinflammatory disease. Cell Host Microbe. 2015;18(2):157–68. doi:10.1016/j.chom.2015.07.001.PubMedCrossRef

Burdette DL, Vance RE. STING and the innate immune response to nucleic acids in the cytosol. Nat Immunol. 2013;14(1):19–26. doi:10.1038/ni.2491.PubMedCrossRef

Schafer SL, Lin R, Moore PA, Hiscott J, Pitha PM. Regulation of type I interferon gene expression by interferon regulatory factor-3. J Biol Chem. 1998;273(5):2714–20.PubMedCrossRef

Honda K, Yanai H, Negishi H, Asagiri M, Sato M, Mizutani T, et al. IRF-7 is the master regulator of type-I interferon-dependent immune responses. Nature. 2005;434(7034):772–7. doi:10.1038/nature03464.PubMedCrossRef

10.

Hardy MP, Owczarek CM, Jermiin LS, Ejdeback M, Hertzog PJ. Characterization of the type I interferon locus and identification of novel genes. Genomics. 2004;84(2):331–45. doi:10.1016/j.ygeno.2004.03.003.PubMedCrossRef

11.

Andersen LL, Mork N, Reinert LS, Kofod-Olsen E, Narita R, Jorgensen SE, et al. Functional IRF3 deficiency in a patient with herpes simplex encephalitis. J Exp Med. 2015;212(9):1371–9. doi:10.1084/jem.20142274.PubMedPubMedCentralCrossRef

12.

Ciancanelli MJ, Huang SX, Luthra P, Garner H, Itan Y, Volpi S, et al. Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science. 2015;348(6233):448–53. doi:10.1126/science.aaa1578.PubMedPubMedCentralCrossRef

13.

Sancho-Shimizu V, Perez de Diego R, Jouanguy E, Zhang SY, Casanova JL. Inborn errors of anti-viral interferon immunity in humans. Curr Opin Virol. 2011;1(6):487–96. doi:10.1016/j.coviro.2011.10.016.PubMedPubMedCentralCrossRef

14.

Jaks E, Gavutis M, Uze G, Martal J, Piehler J. Differential receptor subunit affinities of type I interferons govern differential signal activation. J Mol Biol. 2007;366(2):525–39. doi:10.1016/j.jmb.2006.11.053.PubMedCrossRef

15.

Lavoie TB, Kalie E, Crisafulli-Cabatu S, Abramovich R, DiGioia G, Moolchan K, et al. Binding and activity of all human alpha interferon subtypes. Cytokine. 2011;56(2):282–9. doi:10.1016/j.cyto.2011.07.019.PubMedCrossRef

16.

Cull VS, Tilbrook PA, Bartlett EJ, Brekalo NL, James CM. Type I interferon differential therapy for erythroleukemia: specificity of STAT activation. Blood. 2003;101(7):2727–35. doi:10.1182/blood-2002-05-1521.PubMedCrossRef

17.

Gresser I, Morel-Maroger L, Riviere Y, Guillon JC, Tovey MG, Woodrow D, et al. Interferon-induced disease in mice and rats. Ann N Y Acad Sci. 1980;350:12–20.PubMedCrossRef

18.

Gresser J, Morel-Maroger L, Verroust P, Riviere Y, Guillon JC. Anti-interferon globulin inhibits the development of glomerulonephritis in mice infected at birth with lymphocytic choriomeningitis virus. Proc Natl Acad Sci U S A. 1978;75(7):3413–6.PubMedPubMedCentralCrossRef

19.

Grieves JL, Fye JM, Harvey S, Grayson JM, Hollis T, Perrino FW. Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. Proc Natl Acad Sci U S A. 2015;112(16):5117–22. doi:10.1073/pnas.1423804112.PubMedPubMedCentralCrossRef

20.

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet. 2006;38(8):910–6. doi:10.1038/ng1842.PubMedCrossRef

21.

Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet. 2006;38(8):917–20. doi:10.1038/ng1845.PubMedCrossRef

22.

Goldstone DC, Ennis-Adeniran V, Hedden JJ, Groom HC, Rice GI, Christodoulou E, et al. HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. Nature. 2011;480(7377):379–82. doi:10.1038/nature10623.PubMedCrossRef

23.

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41(7):829–32. doi:10.1038/ng.373.PubMedPubMedCentralCrossRef

24.

Liddicoat BJ, Piskol R, Chalk AM, Ramaswami G, Higuchi M, Hartner JC, et al. RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself. Science. 2015;349(6252):1115–20. doi:10.1126/science.aac7049.PubMedCrossRef

25.

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, et al. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11):1243–8. doi:10.1038/ng.2414.PubMedPubMedCentralCrossRef

26.

Rice GI, del Toro DY, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014;46(5):503–9. doi:10.1038/ng.2933.PubMedPubMedCentralCrossRef

27.

Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, et al. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014;95(1):121–5. doi:10.1016/j.ajhg.2014.06.007.PubMedPubMedCentralCrossRef

28.

Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015;96(2):275–82. doi:10.1016/j.ajhg.2014.12.014.PubMedPubMedCentralCrossRef

29.

Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, et al. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. Am J Hum Genet. 2015;96(2):266–74. doi:10.1016/j.ajhg.2014.11.019.PubMedPubMedCentralCrossRef

30.

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507–18. doi:10.1056/NEJMoa1312625.PubMedPubMedCentralCrossRef

31.

Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 2014;124(12):5516–20. doi:10.1172/JCI79100.PubMedPubMedCentralCrossRef

32.

Volkman HE, Stetson DB. The enemy within: endogenous retroelements and autoimmune disease. Nat Immunol. 2014;15(5):415–22. doi:10.1038/ni.2872.PubMedPubMedCentralCrossRef

33.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, et al. Human intracellular ISG15 prevents interferon-alpha/beta over-amplification and auto-inflammation. Nature. 2015;517(7532):89–93. doi:10.1038/nature13801.PubMedPubMedCentralCrossRef

34.

Macedo AC, Isaac L. Systemic lupus erythematosus and deficiencies of early components of the complement classical pathway. Front Immunol. 2016;7:55. doi:10.3389/fimmu.2016.00055.PubMedPubMedCentralCrossRef

35.

Kim T, Kanayama Y, Negoro N, Okamura M, Takeda T, Inoue T. Serum levels of interferons in patients with systemic lupus erythematosus. Clin Exp Immunol. 1987;70(3):562–9.PubMedPubMedCentral

36.

Bennett L, Palucka AK, Arce E, Cantrell V, Borvak J, Banchereau J, et al. Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med. 2003;197(6):711–23. doi:10.1084/jem.20021553.PubMedPubMedCentralCrossRef

37.

Garcia-Romo GS, Caielli S, Vega B, Connolly J, Allantaz F, Xu Z, et al. Netting neutrophils are major inducers of type I IFN production in pediatric systemic lupus erythematosus. Sci Transl Med. 2011;3(73):73ra20. doi:10.1126/scitranslmed.3001201.PubMedPubMedCentralCrossRef

38.

Kirou KA, Lee C, George S, Louca K, Peterson MG, Crow MK. Activation of the interferon-alpha pathway identifies a subgroup of systemic lupus erythematosus patients with distinct serologic features and active disease. Arthritis Rheum. 2005;52(5):1491–503. doi:10.1002/art.21031.PubMedCrossRef

39.

Niewold TB, Hua J, Lehman TJ, Harley JB, Crow MK. High serum IFN-alpha activity is a heritable risk factor for systemic lupus erythematosus. Genes Immun. 2007;8(6):492–502. doi:10.1038/sj.gene.6364408.PubMedPubMedCentralCrossRef

40.

Ronnblom LE, Alm GV, Oberg KE. Possible induction of systemic lupus erythematosus by interferon-alpha treatment in a patient with a malignant carcinoid tumour. J Intern Med. 1990;227(3):207–10.PubMedCrossRef

41.

Niewold TB, Swedler WI. Systemic lupus erythematosus arising during interferon-alpha therapy for cryoglobulinemic vasculitis associated with hepatitis C. Clin Rheumatol. 2005;24(2):178–81. doi:10.1007/s10067-004-1024-2.PubMedCrossRef

42.

Palucka AK, Blanck JP, Bennett L, Pascual V, Banchereau J. Cross-regulation of TNF and IFN-alpha in autoimmune diseases. Proc Natl Acad Sci U S A. 2005;102(9):3372–7. doi:10.1073/pnas.0408506102.PubMedPubMedCentralCrossRef

43.

Williams EL, Gadola S, Edwards CJ. Anti-TNF-induced lupus. Rheumatology (Oxford). 2009;48(7):716–20. doi:10.1093/rheumatology/kep080.CrossRef

44.

Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007;39(9):1065–7. doi:10.1038/ng2091.PubMedCrossRef

45.

Ellyard JI, Jerjen R, Martin JL, Lee AY, Field MA, Jiang SH, et al. Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing. Arthritis Rheumatol. 2014;66(12):3382–6. doi:10.1002/art.38824.PubMedCrossRef

46.

Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun. 2011;12(4):270–9. doi:10.1038/gene.2010.73.PubMedPubMedCentralCrossRef

47.

Lee-Kirsch MA, Gong M, Schulz H, Ruschendorf F, Stein A, Pfeiffer C, et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet. 2006;79(4):731–7. doi:10.1086/507848.PubMedPubMedCentralCrossRef

48.

Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007;80(4):811–5. doi:10.1086/513443.PubMedPubMedCentralCrossRef

49.

Gunther C, Berndt N, Wolf C, Lee-Kirsch MA. Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3′ repair exonuclease 1 (TREX1). JAMA Dermatol. 2015;151(4):426–31. doi:10.1001/jamadermatol.2014.3438.PubMedCrossRef

50.

Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, et al. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39(9):1068–70. doi:10.1038/ng2082.PubMedCrossRef

51.

Schuh E, Ertl-Wagner B, Lohse P, Wolf W, Mann JF, Lee-Kirsch MA, et al. Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. Neurol Neuroimmunol Neuroinflamm. 2015;2(1):e55. doi:10.1212/NXI.0000000000000055.PubMedPubMedCentralCrossRef

52.

Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A. 2011;155A(1):235–7. doi:10.1002/ajmg.a.33778.PubMedCrossRef

53.

Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, et al. Chilblains as a diagnostic sign of aicardi-goutieres syndrome. Neuropediatrics. 2010;41(1):18–23. doi:10.1055/s-0030-1255059.PubMedCrossRef

54.

Al-Mayouf SM, Sunker A, Abdwani R, Abrawi SA, Almurshedi F, Alhashmi N, et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011;43(12):1186–8. doi:10.1038/ng.975.PubMedCrossRef

55.

Ozcakar ZB, Foster 2nd J, Diaz-Horta O, Kasapcopur O, Fan YS, Yalcinkaya F, et al. DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. Arthritis Rheum. 2013;65(8):2183–9. doi:10.1002/art.38010.PubMedCrossRef

56.

Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, et al. Mutation of DNASE1 in people with systemic lupus erythematosus. Nat Genet. 2001;28(4):313–4. doi:10.1038/91070.PubMedCrossRef

57.

Pickering MC, Botto M, Taylor PR, Lachmann PJ, Walport MJ. Systemic lupus erythematosus, complement deficiency, and apoptosis. Adv Immunol. 2000;76:227–324.PubMedCrossRef

58.

Truedsson L, Bengtsson AA, Sturfelt G. Complement deficiencies and systemic lupus erythematosus. Autoimmunity. 2007;40(8):560–6. doi:10.1080/08916930701510673.PubMedCrossRef

59.

Davies KA, Peters AM, Beynon HL, Walport MJ. Immune complex processing in patients with systemic lupus erythematosus. In vivo imaging and clearance studies. J Clin Invest. 1992;90(5):2075–83. doi:10.1172/JCI116090.PubMedPubMedCentralCrossRef

60.

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(6881):603–7. doi:10.1038/416603a.PubMedCrossRef

61.

Carroll MC. The role of complement in B cell activation and tolerance. Adv Immunol. 2000;74:61–88.PubMedCrossRef

62.

Lood C, Gullstrand B, Truedsson L, Olin AI, Alm GV, Ronnblom L, et al. C1q inhibits immune complex-induced interferon-alpha production in plasmacytoid dendritic cells: a novel link between C1q deficiency and systemic lupus erythematosus pathogenesis. Arthritis Rheum. 2009;60(10):3081–90. doi:10.1002/art.24852.PubMedCrossRef

63.

Chia J, Eroglu FK, Ozen S, Orhan D, Montealegre-Sanchez G, de Jesus AA, et al. Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy. J Am Acad Dermatol. 2015;74(1):186–9. doi:10.1016/j.jaad.2015.10.007.PubMedCrossRef

64.

Omoyinmi E, Melo Gomes S, Nanthapisal S, Woo P, Standing A, Eleftheriou D, et al. Stimulator of interferon genes-associated vasculitis of infancy. Arthritis Rheumatol. 2015;67(3):808. doi:10.1002/art.38998.PubMedCrossRef

65.

Munoz J, Rodiere M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, et al. Stimulator of interferon genes-associated vasculopathy with onset in infancy: a mimic of childhood granulomatosis with polyangiitis. JAMA Dermatol. 2015;151(8):872–7. doi:10.1001/jamadermatol.2015.0251.PubMedCrossRef

66.

Guillerman RP. Imaging of childhood interstitial lung disease. Pediatr Allergy Immunol Pulmonol. 2010;23(1):43–68. doi:10.1089/ped.2010.0010.PubMedPubMedCentralCrossRef

67.

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, et al. 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(12):1159–69. doi:10.1016/S1474-4422(13)70258-8.PubMedPubMedCentralCrossRef

68.

Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A. 2011;108(36):14914–9. doi:10.1073/pnas.1106015108.PubMedPubMedCentralCrossRef

69.

Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, et al. Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64(3):895–907. doi:10.1002/art.33368.PubMedPubMedCentralCrossRef

70.

Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. 2011;121(10):4150–60. doi:10.1172/JCI58414.PubMedPubMedCentralCrossRef

71.

Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87(6):866–72. doi:10.1016/j.ajhg.2010.10.031.PubMedPubMedCentralCrossRef

72.

Nakajo A. Secondary hypertrophic osteoperiostosis with pernio. Jap J Derm Urol. 1939;45:77–86.

73.

Kitano Y, Matsunaga E, Morimoto T, Okada N, Sano S. A syndrome with nodular erythema, elongated and thickened fingers, and emaciation. Arch Dermatol. 1985;121(8):1053–6.PubMedCrossRef

74.

Oyanagi K, Sasaki K, Ohama E, Ikuta F, Kawakami A, Miyatani N, et al. An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration. Acta Neuropathol. 1987;73(4):313–9.PubMedCrossRef

75.

Tanaka M, Miyatani N, Yamada S, Miyashita K, Toyoshima I, Sakuma K, et al. Hereditary lipo-muscular atrophy with joint contracture, skin eruptions and hyper-gamma-globulinemia: a new syndrome. Intern Med. 1993;32(1):42–5.PubMedCrossRef

76.

Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendinez F, Hernandez A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62(3):489–95. doi:10.1016/j.jaad.2009.04.046.PubMedCrossRef

77.

Garg A, Hernandez MD, Sousa AB, Subramanyam L, Martinez de Villarreal L, dos Santos HG, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab. 2010;95(9):E58–63. doi:10.1210/jc.2010-0488.PubMedPubMedCentralCrossRef

78.

Rivett AJ, Hearn AR. Proteasome function in antigen presentation: immunoproteasome complexes, peptide production, and interactions with viral proteins. Curr Protein Pept Sci. 2004;5(3):153–61.PubMedCrossRef

79.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015;125(11):4196–211. doi:10.1172/JCI81260.PubMedCrossRef

80.

Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet. 2011;43(2):127–31. doi:10.1038/ng.748.PubMedCrossRef

81.

Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011;43(2):132–7. doi:10.1038/ng.749.PubMedCrossRef

82.

Schaerer K. Ueber einen fall von kindlichem Lupus erythematodes generalisatus mit eigenartigen Knochenveraenderungen. Helv Paediatr Acta. 1958;13:40–68.

83.

Shinohara ML, Lu L, Bu J, Werneck MB, Kobayashi KS, Glimcher LH, et al. Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells. Nat Immunol. 2006;7(5):498–506. doi:10.1038/ni1327.PubMedPubMedCentralCrossRef

84.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015;167A(2):296–312. doi:10.1002/ajmg.a.36887.PubMedCrossRef

85.

Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, et al. Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Science. 2012;337(6102):1684–8. doi:10.1126/science.1224026.PubMedPubMedCentralCrossRef

86.

Singleton EB, Merten DF. An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition. Pediatr Radiol. 1973;1(1):2–7.PubMedCrossRef

87.

Yao Y, Higgs BW, Morehouse C, de Los Reyes M, Trigona W, Brohawn P et al. Development of potential pharmacodynamic and diagnostic markers for anti-IFN-alpha monoclonal antibody trials in systemic lupus erythematosus. Hum Genomics Proteomics. 2009;2009. doi:10.4061/2009/374312.

88.

Yao Y, Richman L, Higgs BW, Morehouse CA, de los Reyes M, Brohawn P, et al. Neutralization of interferon-alpha/beta-inducible genes and downstream effect in a phase I trial of an anti-interferon-alpha monoclonal antibody in systemic lupus erythematosus. Arthritis Rheum. 2009;60(6):1785–96. doi:10.1002/art.24557.PubMedCrossRef

89.

Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI. Therapies in Aicardi-Goutieres syndrome. Clin Exp Immunol. 2014;175(1):1–8. doi:10.1111/cei.12115.PubMedPubMedCentralCrossRef

90.

McDermott A, Jesus AA, Liu Y, Kim P, Jacks J, Montealegre Sanchez GA, et al. A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations. J Am Acad Dermatol. 2013;69(1):e29–32. doi:10.1016/j.jaad.2013.01.015.PubMedPubMedCentralCrossRef

91.

Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergol Int. 2012;61(2):197–206. doi:10.2332/allergolint.11-RAI-0416.PubMedCrossRef

92.

Junt T, Barchet W. Translating nucleic acid-sensing pathways into therapies. Nat Rev Immunol. 2015;15(9):529–44. doi:10.1038/nri3875.PubMedCrossRef

93.

Montealegre G, Reinhardt A, Brogan P, Berkun Y, Zlotogorski A, Brown D, et al. Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE). Pediatric Rheumatology Online Journal. 2015;13 Suppl 1:O31-O. doi:10.1186/1546-0096-13-S1-O31.CrossRef

94.

Frémond ML, Jeziorski BD, et al. Efficacy of JAK1/2 inhibition in two children with inherited STING-activating mutation. Abstract at PReS YIM congress. 2015.

95.

Merrill JT, Wallace DJ, Petri M, Kirou KA, Yao Y, White WI, et al. Safety profile and clinical activity of sifalimumab, a fully human anti-interferon alpha monoclonal antibody, in systemic lupus erythematosus: a phase I, multicentre, double-blind randomised study. Ann Rheum Dis. 2011;70(11):1905–13. doi:10.1136/ard.2010.144485.PubMedCrossRef

96.

Petri M, Wallace DJ, Spindler A, Chindalore V, Kalunian K, Mysler E, et al. Sifalimumab, a human anti-interferon-alpha monoclonal antibody, in systemic lupus erythematosus: a phase I randomized, controlled, dose-escalation study. Arthritis Rheum. 2013;65(4):1011–21. doi:10.1002/art.37824.PubMedPubMedCentralCrossRef

97.

Higgs BW, Zhu W, Morehouse C, White WI, Brohawn P, Guo X, et al. A phase 1b clinical trial evaluating sifalimumab, an anti-IFN-alpha monoclonal antibody, shows target neutralisation of a type I IFN signature in blood of dermatomyositis and polymyositis patients. Ann Rheum Dis. 2014;73(1):256–62. doi:10.1136/annrheumdis-2012-202794.PubMedPubMedCentralCrossRef

Title: Type I interferonopathies in pediatric rheumatology
Authors: Stefano Volpi
Paolo Picco
Roberta Caorsi
Fabio Candotti
Marco Gattorno
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue 1/2016
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/s12969-016-0094-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Type I interferonopathies in pediatric rheumatology

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2016

Biologic agents in juvenile spondyloarthropathies

Lipoprotein cholesterol fractions are related to markers of inflammation in children and adolescents with juvenile idiopathic arthritis: a cross sectional study

Abnormal body composition, cardiovascular endurance, and muscle strength in pediatric SLE

Juvenile idiopathic arthritis-associated uveitis

The lived experience of juvenile idiopathic arthritis in young people receiving etanercept

A recurring rollercoaster ride: a qualitative study of the emotional experiences of parents of children with juvenile idiopathic arthritis