Arthritis und Rheuma, Table of Contents Arthritis und Rheuma 2017; 37(05): 351-352DOI: 10.1055/s-0037-1618442 Kinderrheumatologie/Kasuistik Schattauer GmbH Juvenile Arthritis durch neue Mutation in FAMIN (LACC1) bei zwei Patientinnen mit systemischem und oligoartikulärem Verlauf[1] A. Thorwarth 1 Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie, Sektion Rheumatologie/SPZ Rheumatologie, Charité Universitätsmedizin Berlin , T. Kallinich 1 Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie, Sektion Rheumatologie/SPZ Rheumatologie, Charité Universitätsmedizin Berlin › Author Affiliations Recommend Article Abstract Buy Article Full Text References Literatur 1 Bruck N, Schnabel A, Hedrich CM. Current understanding of the pathophysiology of systemic juvenile idiopathic arthritis (sJIA) and target-directed therapeutic approaches. Clinical immunology 2015; 159: 72-83. doi:10.1016/j.clim.2015.04.018 2 Pascual V, Allantaz F, Arce E. et al. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. The Journal of experimental medicine 2005; 201: 1479-1486. doi:10.1084/jem.20050473 3 de Jager W. et al. Blood and synovial fluid cytokine signatures in patients with juvenile idiopathic arthritis: a cross-sectional study. Annals of the rheumatic diseases 2007; 66: 589-598. doi:10.1136/ard.2006.061853 4 Pignatti P. et al. Abnormal regulation of interleukin 6 in systemic juvenile idiopathic arthritis. J Rheumatol 2001; 28: 1670-1676. 5 Wittkowski H. et al. S100A12 is a novel molecular marker differentiating systemic-onset juvenile idiopathic arthritis from other causes of fever of unknown origin. Arthritis and rheumatism 2008; 58: 3924-3931. doi:10.1002/art.24137 6 Stock CJ. et al. Comprehensive association study of genetic variants in the IL-1 gene family in systemic juvenile idiopathic arthritis. Genes and immunity 2008; 9: 349-357. doi:10.1038/gene.2008.24 7 Meazza C. et al. Macrophage migration inhibitory factor in patients with juvenile idiopathic arthritis. Arthritis and rheumatism 2002; 46: 232-237. doi:10.1002/1529–0131(200201)46:1<232::AID-ART10059> 3.0.CO;2-B 8 Hedrich CM, Bream JH. Cell type-specific regulation of IL-10 expression in inflammation and disease. Immunologic research 2010; 47: 185-206. doi:10.1007/s12026–009–8150–5 9 Ombrello MJ. et al. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proceedings of the National Academy of Sciences of the United States of America 2015; 112: 15970-15975. doi:10.1073/pnas.1520779112 10 Wakil SM. et al. Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis. Arthritis & rheumatology 2015; 67: 288-295. doi:10.1002/art.38877 11 Arostegui JI. et al. A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis. Pediatric Rheumatology 2015; 13 (Suppl. 01) O76 12 Liu H. et al. Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. Nat Genet 47 267-271. 2015; 13 Liu JZ. et al. Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Nat Genet 2015; 47: 979-986. 14 Jostins L. et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012; 491: 119-124. doi:10.1038/nature11582 15 Franke A. et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn‘s disease susceptibility loci. Nat Genet 2010; 42: 1118-1125. doi:10.1038/ng.717 16 Patel N. et al. Study of Mendelian forms of Crohn‘s disease in Saudi Arabia reveals novel risk loci and alleles. Gut 2014; 63: 1831-1832. doi:10.1136/gutjnl-2014–307859 17 Cader MZ. et al. C13orf31 (FAMIN) is a central regulator of immunometabolic function.. Nature immunology 2016;
