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Genet."},{"key":"10.1016\/j.ejmg.2021.104214_bib74","doi-asserted-by":"crossref","DOI":"10.3748\/wjg.v21.i1.60","article-title":"Autoimmune hepatitis, one disease with many faces: etiopathogenetic, clinico-laboratory and histological characteristics","author":"Gatselis","year":"2015","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib75","doi-asserted-by":"crossref","DOI":"10.4103\/0019-5154.91836","article-title":"Churg-strauss syndrome","author":"Ghosh","year":"2011","journal-title":"Indian J. Dermatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib76","doi-asserted-by":"crossref","DOI":"10.4239\/wjd.v11.i1.13","article-title":"Current understandings of the pathogenesis of type 1 diabetes: genetics to environment","author":"Giwa","year":"2020","journal-title":"World J. Diabetes"},{"key":"10.1016\/j.ejmg.2021.104214_bib77","article-title":"X-linked lymphoreticular disease in the scurfy (sf) mutant mouse","author":"Godfrey","year":"1991","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ejmg.2021.104214_bib79","doi-asserted-by":"crossref","DOI":"10.4049\/jimmunol.166.10.6413","article-title":"Genetic regulation of autoimmune disease: BALB\/c background TGF-\u03b21-deficient mice develop necroinflammatory IFN-\u03b3-Dependent hepatitis","author":"Gorham","year":"2001","journal-title":"J. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib80","doi-asserted-by":"crossref","DOI":"10.1016\/j.gene.2018.05.041","article-title":"The genetics and molecular pathogenesis of systemic lupus erythematosus (SLE) in populations of different ancestry","author":"Goulielmos","year":"2018","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2021.104214_bib81","doi-asserted-by":"crossref","DOI":"10.1002\/hep.510250308","article-title":"Autoimmune hepatitis in childhood: a 20-year experience","author":"Gregorio","year":"1997","journal-title":"Hepatology"},{"issue":"3","key":"10.1016\/j.ejmg.2021.104214_bib82","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.jhep.2013.10.020","article-title":"Autoimmune hepatitis in Denmark: incidence, prevalence, prognosis, and causes of death. A nationwide registry-based cohort study","volume":"60","author":"Gr\u00f8nb\u00e6k","year":"2014","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib83","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhep.2018.05.035","article-title":"Family occurrence of autoimmune hepatitis: a Danish nationwide registry-based cohort study","author":"Gr\u00f8nb\u00e6k","year":"2018","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib84","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0089565","article-title":"A critical evaluation of microRNA biomarkers in non-neoplastic disease","author":"Haider","year":"2014","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2021.104214_bib85","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0012496","article-title":"An updated meta-analysis of risk of multiple sclerosis following infectious mononucleosis","author":"Handel","year":"2010","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2021.104214_bib86","doi-asserted-by":"crossref","DOI":"10.1002\/hep.27639","article-title":"Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens","author":"Hardtke-Wolenski","year":"2015","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib87","doi-asserted-by":"crossref","DOI":"10.1038\/s41588-018-0102-3","article-title":"Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity","author":"Harley","year":"2018","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104214_bib88","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/hep.22322","article-title":"Simplified criteria for the diagnosis of autoimmune hepatitis","volume":"48","author":"Hennes","year":"2008","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib89","doi-asserted-by":"crossref","DOI":"10.3748\/wjg.v16.i41.5241","article-title":"Clinical analysis of high serum IgE in autoimmune pancreatitis","author":"Hirano","year":"2010","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib90","series-title":"XSuper-Enhancers in the Control of Cell Identity and Disease","author":"Hnisz","year":"2013"},{"issue":"7","key":"10.1016\/j.ejmg.2021.104214_bib91","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.1053\/j.gastro.2011.02.065","article-title":"Long-term outcomes of patients with autoimmune hepatitis managed at a nontransplant center","volume":"140","author":"Hoeroldt","year":"2011","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2021.104214_bib92","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20071859","article-title":"Breaking tolerance to the natural human liver autoantigen cytochrome P450 2D6 by virus infection","author":"Holdener","year":"2008","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.ejmg.2021.104214_bib93","article-title":"Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in beta-cell autoimmunity","author":"Huang","year":"1996","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104214_bib94","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/ng.102","article-title":"Newly identified genetic risk variants for celiac disease related to the immune response","volume":"40","author":"Hunt","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2021.104214_bib95","doi-asserted-by":"crossref","DOI":"10.1111\/j.1572-0241.2002.06019.x","article-title":"Prevalence of autoimmune liver disease in Alaska natives","author":"Hurlburt","year":"2002","journal-title":"Am. J. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib96","doi-asserted-by":"crossref","DOI":"10.4049\/jimmunol.182.1.391","article-title":"Role of TNF-\u03b1 produced by nonantigen-specific cells in a fulminant hepatitis mouse model","author":"Ito","year":"2009","journal-title":"J. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib97","doi-asserted-by":"crossref","DOI":"10.1016\/j.clim.2012.10.008","article-title":"TNF-\u03b1 is essential in the induction of fatal autoimmune hepatitis in mice through upregulation of hepatic CCL20 expression","author":"Iwamoto","year":"2013","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib98","doi-asserted-by":"crossref","DOI":"10.1006\/clin.1997.4412","article-title":"Epidemiology and estimated population burden of selected autoimmune diseases in the United States","author":"Jacobson","year":"1997","journal-title":"Clin. Immunol. Immunopathol."},{"key":"10.1016\/j.ejmg.2021.104214_bib99","doi-asserted-by":"crossref","DOI":"10.4049\/jimmunol.0803217","article-title":"1,25-Dihydroxyvitamin D 3 and IL-2 combine to inhibit T cell production of inflammatory cytokines and promote development of regulatory T cells expressing CTLA-4 and FoxP3","author":"Jeffery","year":"2009","journal-title":"J. Immunol."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104214_bib100","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/hep4.1163","article-title":"Changes in natural killer cells and exhausted memory regulatory T Cells with corticosteroid therapy in acute autoimmune hepatitis","volume":"2","author":"Jeffery","year":"2018","journal-title":"Hepatol. Commun."},{"key":"10.1016\/j.ejmg.2021.104214_bib101","article-title":"Autoimmune disease in the epigenetic era: how has epigenetics changed our understanding of disease and how can we expect the field to evolve?","author":"Jeffries","year":"2014","journal-title":"Expet Rev. Clin. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib102","series-title":"Incidence and Characteristics of Autoimmune Hepatitis. Pediatrics","author":"Jim\u00e9nez-Rivera","year":"2015"},{"key":"10.1016\/j.ejmg.2021.104214_bib103","article-title":"AMBER-a novel phase 2\/3 trial of ianalumab, a human anti-BAFF receptor antibody, in autoimmune hepatitis, NCT03217422","author":"Jones","year":"2018","journal-title":"Hepatology"},{"issue":"4","key":"10.1016\/j.ejmg.2021.104214_bib104","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1007\/s00431-015-2662-x","article-title":"Human leucocyte antigens and pediatric autoimmune liver disease: diagnosis and prognosis","volume":"175","author":"Junge","year":"2016","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2021.104214_bib105","doi-asserted-by":"crossref","DOI":"10.1038\/s41586-020-2277-x","article-title":"Complement genes contribute sex-biased vulnerability in diverse disorders","author":"Kamitaki","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2021.104214_bib106","doi-asserted-by":"crossref","DOI":"10.1385\/IR:31:3:231","article-title":"STAT4: a critical regulator of inflammation in vivo","author":"Kaplan","year":"2005","journal-title":"Immunol. Res."},{"key":"10.1016\/j.ejmg.2021.104214_bib107","doi-asserted-by":"crossref","DOI":"10.1002\/eji.201343883","article-title":"Lnk prevents inflammatory CD8+ T-cell proliferation and contributes to intestinal homeostasis","author":"Katayama","year":"2014","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib108","doi-asserted-by":"crossref","DOI":"10.3390\/nu12082244","article-title":"Vitamin\u2010D receptor\u2010gene polymorphisms affect quality of life in patients with autoimmune liver diseases","author":"Kempinska\u2010Podhorodecka","year":"2020","journal-title":"Nutrients"},{"key":"10.1016\/j.ejmg.2021.104214_bib109","doi-asserted-by":"crossref","DOI":"10.1016\/S1542-3565(04)00246-0","article-title":"Fulminant hepatic failure as the initial presentation of acute autoimmune hepatitis","author":"Kessler","year":"2004","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib110","doi-asserted-by":"crossref","DOI":"10.1194\/jlr.R800082-JLR200","article-title":"Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions","author":"Kienesberger","year":"2009","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ejmg.2021.104214_bib111","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms6902","article-title":"The HLA-DR\u03b21 amino acid positions 11-13-26 explain the majority of SLE-MHC associations","author":"Kim","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ejmg.2021.104214_bib112","doi-asserted-by":"crossref","DOI":"10.1002\/hep.27983","article-title":"Prediction of short- and long-term outcome in patients with autoimmune hepatitis","author":"Kirstein","year":"2015","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib113","article-title":"Autoimmune polyglandular syndrome type 2 with myasthenia gravis crisis","author":"Konno","year":"2009","journal-title":"Neurol."},{"issue":"7","key":"10.1016\/j.ejmg.2021.104214_bib114","doi-asserted-by":"crossref","DOI":"10.1053\/j.gastro.2020.01.053","article-title":"Toward genetic prediction of nonalcoholic fatty liver disease trajectories: PNPLA3 and beyond","volume":"158","author":"Krawczyk","year":"2020","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2021.104214_bib115","doi-asserted-by":"crossref","DOI":"10.1126\/science.aay3638","article-title":"A noninflammatory mRNA vaccine for treatment of experimental autoimmune encephalomyelitis","author":"Krienke","year":"2021","journal-title":"Science"},{"issue":"8","key":"10.1016\/j.ejmg.2021.104214_bib116","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0202942","article-title":"PNPLA3 p.I148M and TM6SF2 p.E167K variants do not predispose to liver injury in cholestatic liver diseases: a prospective analysis of 178 patients with PSC","volume":"13","author":"Kruk","year":"2018","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2021.104214_bib117","doi-asserted-by":"crossref","DOI":"10.1126\/science.1255904","article-title":"Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4","author":"Kuehn","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2021.104214_bib118","doi-asserted-by":"crossref","DOI":"10.2337\/db13-0619","article-title":"Coxsackievirus b1 is associated with induction of \u03b2-cells autoimmunity that portends type 1 diabetes","author":"Laitinen","year":"2014","journal-title":"Diabetes"},{"key":"10.1016\/j.ejmg.2021.104214_bib119","article-title":"Overexpression of CARMA3 in non-small-cell lung cancer is linked for tumor progression","author":"Li","year":"2012","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2021.104214_bib120","article-title":"MiR-122 modulates type i interferon expression through blocking suppressor of cytokine signaling 1","author":"Li","year":"2013","journal-title":"Int. J. Biochem. Cell Biol."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104214_bib121","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.bpg.2011.09.009","article-title":"Pathogenesis of autoimmune hepatitis","volume":"25","author":"Liberal","year":"2011","journal-title":"Best Pract. Res. Clin. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib122","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2016.07.005","article-title":"Cutting edge issues in autoimmune hepatitis","author":"Liberal","year":"2016","journal-title":"J. Autoimmun."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104214_bib123","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.jhep.2007.08.019","article-title":"Susceptibility to type 1 autoimmune hepatitis is associated with shared amino acid sequences at positions 70\u201374 of the HLA-DRB1 molecule","volume":"48","author":"Lim","year":"2008","journal-title":"J. Hepatol."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104214_bib124","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1002\/hep.30059","article-title":"Low-dose interleukin-2 for refractory autoimmune hepatitis","volume":"68","author":"Lim","year":"2018","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib125","doi-asserted-by":"crossref","DOI":"10.1038\/labinvest.3700246","article-title":"MHC-independent genetic regulation of liver damage in a mouse model of autoimmune hepatocellular injury","author":"Lin","year":"2005","journal-title":"Lab. Invest."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104214_bib126","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0146086","article-title":"Exploring the role of killer cell immunoglobulin-like receptors and their HLA class I ligands in autoimmune hepatitis","volume":"11","author":"Littera","year":"2016","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2021.104214_bib127","doi-asserted-by":"crossref","DOI":"10.1038\/ng.2395","article-title":"Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis","author":"Liu","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2021.104214_bib128","doi-asserted-by":"crossref","DOI":"10.1038\/ng.2616","article-title":"Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis","author":"Liu","year":"2013","journal-title":"Nat. Genet."},{"issue":"12","key":"10.1016\/j.ejmg.2021.104214_bib129","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1111\/apt.15754","article-title":"A disease-specific decline of the relative abundance of Bifidobacterium in patients with autoimmune hepatitis","volume":"51","author":"Liwinski","year":"2020","journal-title":"Aliment. Pharmacol. Ther."},{"key":"10.1016\/j.ejmg.2021.104214_bib130","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2014.12.013","article-title":"Autoimmune liver disease in noonan syndrome","author":"Loddo","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104214_bib131","article-title":"EASL clinical practice guidelines: autoimmune hepatitis","author":"Lohse","year":"2015","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib132","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhep.2020.07.023","article-title":"Second-line and third-line therapy for autoimmune hepatitis: a position statement from the European reference network on hepatological diseases and the international autoimmune hepatitis group","author":"Lohse","year":"2020","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib133","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhep.2004.03.008","article-title":"Impairment of CD4+CD25+ regulatory T-cells in autoimmune liver disease","author":"Longhi","year":"2004","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib134","article-title":"Diagnosis and management of autoimmune hepatitis in adults and children: 2019 practice guidance and guidelines from the American Association for the study of liver diseases","author":"Mack","year":"2019","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib135","doi-asserted-by":"crossref","DOI":"10.1016\/0016-5085(94)90426-X","article-title":"Primary and secondary liver\/kidney microsomal autoantibody response following infection with hepatitis C virus","author":"Mackie","year":"1994","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2021.104214_bib136","article-title":"Vitamin D supplements and prevention of cancer and cardiovascular disease","author":"Manson","year":"2019","journal-title":"N. Engl. J. Med."},{"issue":"4","key":"10.1016\/j.ejmg.2021.104214_bib137","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/nri3799","article-title":"Balancing natural killer cell activation through paired receptors","volume":"15","author":"Martinet","year":"2015","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib138","doi-asserted-by":"crossref","DOI":"10.1111\/apt.15722","article-title":"The PNPLA3 rs738409 GG genotype is associated with poorer prognosis in 239 patients with autoimmune hepatitis","author":"Mederacke","year":"2020","journal-title":"Aliment. Pharmacol. Ther."},{"key":"10.1016\/j.ejmg.2021.104214_bib139","doi-asserted-by":"crossref","DOI":"10.1038\/s41435-019-0086-8","article-title":"No association of HLA\u2013DRB1 and TNF alleles in Mexican patients with autoimmune hepatitis","author":"Mendoza-Carrera","year":"2019","journal-title":"Gene Immun."},{"key":"10.1016\/j.ejmg.2021.104214_bib140","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbrc.2012.07.152","article-title":"CARMA3 is overexpressed in colon cancer and regulates NF-\u03baB activity and cyclin D1 expression","author":"Miao","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104214_bib141","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.bpg.2011.10.007","article-title":"Autoimmune liver diseases in children - what is different from adulthood?","volume":"25","author":"Mieli-Vergani","year":"2011","journal-title":"Best Pract. Res. Clin. Gastroenterol."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104214_bib142","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1097\/MPG.0000000000001801","article-title":"Diagnosis and management of pediatric autoimmune liver disease: ESPGHAN hepatology committee position statement","volume":"66","author":"Mieli-Vergani","year":"2018","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ejmg.2021.104214_bib143","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0071382","article-title":"Association of STAT4 polymorphisms with susceptibility to type-1 autoimmune hepatitis in the Japanese population","author":"Migita","year":"2013","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2021.104214_bib144","doi-asserted-by":"crossref","DOI":"10.1186\/s13104-015-1733-4","article-title":"Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population","author":"Migita","year":"2015","journal-title":"BMC Res. Notes"},{"issue":"11","key":"10.1016\/j.ejmg.2021.104214_bib145","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0136908","article-title":"Circulating microRNA profiles in patients with type-1 autoimmune hepatitis","volume":"10","author":"Migita","year":"2015","journal-title":"PloS One"},{"issue":"2","key":"10.1016\/j.ejmg.2021.104214_bib146","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1097\/00007890-199907270-00016","article-title":"Recurrence of autoimmune hepatitis after liver transplantation","volume":"68","author":"Milkiewicz","year":"1999","journal-title":"Transplantation"},{"key":"10.1016\/j.ejmg.2021.104214_bib147","doi-asserted-by":"crossref","DOI":"10.1046\/j.1440-1746.2000.02158.x","article-title":"Wilson's disease with superimposed autoimmune features: report of two cases and review","author":"Milkiewicz","year":"2000","journal-title":"J. Gastroenterol. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib148","doi-asserted-by":"crossref","DOI":"10.1084\/jem.179.5.1529","article-title":"T cell activation-associated hepatic injury: mediation by tumor necrosis factors and protection by interleukin 6","author":"Mizuhara","year":"1994","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.ejmg.2021.104214_bib149","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008092","article-title":"Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians","author":"Molineros","year":"2019","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ejmg.2021.104214_bib150","doi-asserted-by":"crossref","DOI":"10.1016\/j.clim.2007.08.008","article-title":"The role of Ras signaling in lupus T lymphocytes: biology and pathogenesis","author":"Mor","year":"2007","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib151","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajhg.2012.08.026","article-title":"Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in europeans","author":"Morris","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104214_bib152","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1016\/j.jhep.2009.01.020","article-title":"Autoimmune hepatitis in Italy: the Bologna experience","volume":"50","author":"Muratori","year":"2009","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib153","doi-asserted-by":"crossref","DOI":"10.1016\/0016-5085(90)90965-4","article-title":"Involvement of tumor necrosis factor-\u03b1 in the pathogenesis of activated macrophage-mediated hepatitis in mice","author":"Nagakawa","year":"1990","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2021.104214_bib154","doi-asserted-by":"crossref","DOI":"10.1111\/j.1440-1746.2010.06384.x","article-title":"Population-based epidemiology study of autoimmune hepatitis: a disease of older women?","author":"Ngu","year":"2010","journal-title":"J. Gastroenterol. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib155","doi-asserted-by":"crossref","DOI":"10.1002\/hep.26290","article-title":"Predictors of poor outcome in patients w ith autoimmune hepatitis: a population-based study","author":"Ngu","year":"2013","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib156","doi-asserted-by":"crossref","DOI":"10.1590\/s0004-2803.201900000-29","article-title":"HLA-DRB1 gene polymorphisms in pediatric patients with type 1 autoimmune hepatitis and type 1 autoimmune hepatitis overlap syndrome with autoimmune cholangitis","author":"Nunes","year":"2019","journal-title":"Arq. 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Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib171","doi-asserted-by":"crossref","DOI":"10.1053\/gast.1997.v113.pm9322534","article-title":"Fas\/APO1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis","author":"Pensati","year":"1997","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2021.104214_bib172","doi-asserted-by":"crossref","DOI":"10.1038\/nri2450","article-title":"Transcriptional regulation by AIRE: molecular mechanisms of central tolerance","author":"Peterson","year":"2008","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib173","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddw341","article-title":"PNPLA3 overexpression results in reduction of proteins predisposing to fibrosis","author":"Pingitore","year":"2016","journal-title":"Hum. Mol. 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Immunol."},{"issue":"9","key":"10.1016\/j.ejmg.2021.104214_bib177","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1016\/j.dld.2019.01.015","article-title":"Incidence, prevalence, and causes of death of patients with autoimmune hepatitis: a nationwide register-based cohort study in Finland","volume":"51","author":"Puustinen","year":"2019","journal-title":"Dig. Liver Dis."},{"key":"10.1016\/j.ejmg.2021.104214_bib178","doi-asserted-by":"crossref","DOI":"10.1016\/j.dld.2014.02.003","article-title":"The association between cytotoxic T lymphocyte associated antigen-4, Fas, tumour necrosis factor-\u03b1 gene polymorphisms and autoimmune hepatitis: a meta-analysis","author":"Qin","year":"2014","journal-title":"Dig. Liver Dis."},{"key":"10.1016\/j.ejmg.2021.104214_bib179","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.35290","article-title":"Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies","author":"Quaio","year":"2012","journal-title":"Am. J. 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Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib183","doi-asserted-by":"crossref","DOI":"10.3748\/wjg.v21.i24.7584","article-title":"Autoimmune hepatitis and anti-tumor necrosis factor alpha therapy: a single center report of 8 cases","author":"Rodrigues","year":"2015","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib184","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2018.10.012","article-title":"Molecular mimicry and autoimmunity","author":"Rojas","year":"2018","journal-title":"J. Autoimmun."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104214_bib185","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/annrheumdis-2018-214229","article-title":"Immunological and clinical effects of low-dose interleukin-2 across 11 autoimmune diseases in a single, open clinical trial","volume":"78","author":"Rosenzwajg","year":"2019","journal-title":"Ann. Rheum. 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Commun."},{"key":"10.1016\/j.ejmg.2021.104214_bib189","doi-asserted-by":"crossref","DOI":"10.14309\/01.ajg.0000599480.88182.e1","article-title":"2487 primary biliary cholangitis with autoimmune hepatitis overlap in twin males: a unique case of related autoimmune diseases","author":"Sanchez","year":"2019","journal-title":"Am. J. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib190","doi-asserted-by":"crossref","DOI":"10.1590\/S0004-28032009000100016","article-title":"Nutritional status of patients with biliary atresia and autoimmune hepatitis related to serum levels of vitamins A, D and E","author":"Saron","year":"2009","journal-title":"Arq. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib191","doi-asserted-by":"crossref","DOI":"10.1038\/nm.3746","article-title":"Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations","author":"Schubert","year":"2014","journal-title":"Nat. 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Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib198","article-title":"The HLA region and autoimmune disease: associations and mechanisms of action","author":"Simmonds","year":"2009","journal-title":"Curr. Genom."},{"key":"10.1016\/j.ejmg.2021.104214_bib199","article-title":"Risk factors for autoimmune hepatitis: from genesand pregnancy to vaccinations and pollutants","author":"Smyk","year":"2013","journal-title":"Immuno Gastroenterol."},{"issue":"9","key":"10.1016\/j.ejmg.2021.104214_bib200","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1097\/FPC.0000000000000230","article-title":"Autoantibody presentation in drug-induced liver injury and idiopathic autoimmune hepatitis: the influence of human leucocyte antigen alleles","volume":"26","author":"Stephens","year":"2016","journal-title":"Pharmacogenetics Genom."},{"key":"10.1016\/j.ejmg.2021.104214_bib201","doi-asserted-by":"crossref","DOI":"10.1097\/FPC.0000000000000230","article-title":"Autoantibody presentation in drug-induced liver injury and idiopathic autoimmune hepatitis: the influence of human leucocyte antigen alleles","author":"Stephens","year":"2016","journal-title":"Pharmacogenetics Genom."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104214_bib202","doi-asserted-by":"crossref","first-page":"2028","DOI":"10.1053\/gast.1997.v112.pm9178696","article-title":"Allelic basis for HLA-encoded susceptibility to type 1 autoimmune hepatitis","volume":"112","author":"Strettell","year":"1997","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ejmg.2021.104214_bib203","doi-asserted-by":"crossref","DOI":"10.4049\/jimmunol.170.2.703","article-title":"Impaired lymphopoiesis and altered B cell subpopulations in mice overexpressing Lnk adaptor protein","author":"Takaki","year":"2003","journal-title":"J. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib204","doi-asserted-by":"crossref","DOI":"10.1111\/hepr.13342","article-title":"Increase trend in the prevalence and male-to-female ratio of primary biliary cholangitis, autoimmune hepatitis, and primary sclerosing cholangitis in Japan","author":"Tanaka","year":"2019","journal-title":"Hepatol. Res."},{"key":"10.1016\/j.ejmg.2021.104214_bib205","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhep.2014.05.034","article-title":"Intrahepatic regulatory T cells in autoimmune hepatitis are associated with treatment response and depleted with current therapies","author":"Taubert","year":"2014","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib206","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-018-35882-7","article-title":"Increased seroprevalence of HAV and parvovirus B19 in children and of HEV in adults at diagnosis of autoimmune hepatitis","author":"Taubert","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejmg.2021.104214_bib207","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2019.05.017","article-title":"Regulatory T cells engineered with a novel insulin-specific chimeric antigen receptor as a candidate immunotherapy for type 1 diabetes","author":"Tenspolde","year":"2019","journal-title":"J. Autoimmun."},{"key":"10.1016\/j.ejmg.2021.104214_bib208","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2018.07.006","article-title":"Autoimmune liver disease serology in acute hepatitis E virus infection","author":"Terziroli Beretta-Piccoli","year":"2018","journal-title":"J. Autoimmun."},{"key":"10.1016\/j.ejmg.2021.104214_bib209","series-title":"JHEP Reports","article-title":"Efficacy of rituximab in difficult-to-manage autoimmune hepatitis: results from the international autoimmune hepatitis group","author":"Than","year":"2019"},{"key":"10.1016\/j.ejmg.2021.104214_bib210","series-title":"Loss of CTLA-4 Leads to Massive Lymphoproliferation and Fatal Multiorgan Tissue Destruction, Revealing a Critical Negative Regulatory Role of CTLA-4. Immunity","author":"Tivol","year":"1995"},{"key":"10.1016\/j.ejmg.2021.104214_bib211","doi-asserted-by":"crossref","DOI":"10.1038\/ng2068","article-title":"Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes","author":"Todd","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2021.104214_bib212","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaut.2010.06.017","article-title":"The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies","author":"Tsuda","year":"2010","journal-title":"J. Autoimmun."},{"key":"10.1016\/j.ejmg.2021.104214_bib213","doi-asserted-by":"crossref","DOI":"10.1016\/j.semarthrit.2017.06.007","article-title":"Concordance of autoimmune disease in a nationwide Danish systemic lupus erythematosus twin cohort","author":"Ulff-M\u00f8ller","year":"2018","journal-title":"Semin. Arthritis Rheum."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104214_bib215","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.jhepr.2019.09.003","article-title":"KIR\/HLA genotypes confer susceptibility and progression in patients with autoimmune hepatitis","volume":"1","author":"Umemura","year":"2019","journal-title":"JHEP Rep."},{"key":"10.1016\/j.ejmg.2021.104214_bib216","doi-asserted-by":"crossref","DOI":"10.1016\/S0168-8278(02)80564-5","article-title":"Different immunogenetic background in autoimmune hepatitis type 1, type 2 and autoimmune sclerosing cholangitis","author":"Underhill","year":"2002","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib217","doi-asserted-by":"crossref","DOI":"10.1038\/nature14154","article-title":"Super-enhancers delineate disease-associated regulatory nodes in T cells","author":"Vahedi","year":"2015","journal-title":"Nature"},{"issue":"May","key":"10.1016\/j.ejmg.2021.104214_bib218","first-page":"1","article-title":"Increased incidence of autoimmune hepatitis is associated with wider use of biological drugs","author":"Valgeirsson","year":"2019","journal-title":"Liver Int."},{"key":"10.1016\/j.ejmg.2021.104214_bib219","doi-asserted-by":"crossref","DOI":"10.1016\/j.cgh.2018.09.046","article-title":"Increased mortality among patients with vs without cirrhosis and autoimmune hepatitis","author":"van den Brand","year":"2019","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib220","doi-asserted-by":"crossref","DOI":"10.3109\/00365521.2014.946083","article-title":"Epidemiology and clinical characteristics of autoimmune hepatitis in The Netherlands","author":"Van Gerven","year":"2014","journal-title":"Scand. J. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib221","doi-asserted-by":"crossref","DOI":"10.1038\/nri724","article-title":"Epitope spreading in immune-mediated diseases: implications for immunotherapy","author":"Vanderlugt","year":"2002","journal-title":"Nat. Rev. Immunol."},{"issue":"6","key":"10.1016\/j.ejmg.2021.104214_bib222","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0168-8278(98)80347-4","article-title":"MHC class H sequences of susceptibility and protection in Mexicans with autoimmune hepatitis","volume":"28","author":"V\u00e1zquez-Garc\u00eda","year":"1998","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib223","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(85)90348-4","article-title":"Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis","author":"Vergani","year":"1985","journal-title":"Lancet"},{"key":"10.1016\/j.ejmg.2021.104214_bib224","doi-asserted-by":"crossref","DOI":"10.1016\/j.clinre.2014.06.017","article-title":"Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease","author":"Veropalumbo","year":"2015","journal-title":"Clin. Res. Hepatol. Gastroenterol."},{"key":"10.1016\/j.ejmg.2021.104214_bib225","doi-asserted-by":"crossref","DOI":"10.1111\/j.0105-2896.2005.00246.x","article-title":"AIRE and APECED: molecular insights into an autoimmune disease","author":"Villase\u00f1or","year":"2005","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.ejmg.2021.104214_bib226","doi-asserted-by":"crossref","DOI":"10.1053\/jhep.2001.24031","article-title":"Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1","author":"Vogel","year":"2001","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib227","doi-asserted-by":"crossref","DOI":"10.1053\/jhep.2002.30084","article-title":"Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis","author":"Vogel","year":"2002","journal-title":"Hepatology"},{"key":"10.1016\/j.ejmg.2021.104214_bib228","doi-asserted-by":"crossref","DOI":"10.1038\/sj.gene.6363918","article-title":"77 C\/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for a genetic link","author":"Vogel","year":"2003","journal-title":"Gene Immun."},{"key":"10.1016\/j.ejmg.2021.104214_bib229","doi-asserted-by":"crossref","DOI":"10.1038\/nri3108","article-title":"The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses","author":"Walker","year":"2011","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.ejmg.2021.104214_bib230","doi-asserted-by":"crossref","DOI":"10.1097\/MPG.0000000000000245","article-title":"Autoantibody and human leukocyte antigen profiles in children with autoimmune liver disease and their first-degree relatives","author":"Wang","year":"2014","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ejmg.2021.104214_bib231","doi-asserted-by":"crossref","DOI":"10.1111\/j.0105-2896.2004.00211.x","article-title":"Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4","author":"Watford","year":"2004","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.ejmg.2021.104214_bib232","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhep.2016.01.017","article-title":"Single-gene association between GATA-2 and autoimmune hepatitis: a novel genetic insight highlighting immunologic pathways to disease","author":"Webb","year":"2016","journal-title":"J. Hepatol."},{"issue":"1","key":"10.1016\/j.ejmg.2021.104214_bib233","doi-asserted-by":"crossref","DOI":"10.1146\/annurev-pathol-020117-043534","article-title":"Cellular and molecular mechanisms of autoimmune hepatitis","volume":"13","author":"Webb","year":"2018","journal-title":"Annu. Rev. Pathol."},{"key":"10.1016\/j.ejmg.2021.104214_bib234","doi-asserted-by":"crossref","DOI":"10.1016\/j.jhep.2012.11.010","article-title":"Infliximab as a rescue treatment in difficult-to-treat autoimmune hepatitis","author":"Weiler-Normann","year":"2013","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ejmg.2021.104214_bib235","doi-asserted-by":"crossref","DOI":"10.1080\/00365520802130183","article-title":"Epidemiology and the initial presentation of autoimmune hepatitis in Sweden: a nationwide study","author":"Werner","year":"2008","journal-title":"Scand. J. 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