Download PDF
Arthritis und Rheuma 2017; 37(05): 351-352
DOI: 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
Further Information

Publication History

Publication Date:
28 December 2017 (online)

    Permissions and Reprints

 

1 Dieser Fall wurde kürzlich umfassender unter dem Titel „Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course” in der Zeitschrift Pediatr Rheumatol Online J publiziert und weiterführend diskutiert.


 

  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 4 Pignatti P. et al. Abnormal regulation of interleukin 6 in systemic juvenile idiopathic arthritis. J Rheumatol 2001; 28: 1670-1676.
    Google Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    PubMedGoogle Scholar
  • 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
    CrossrefGoogle Scholar
  • 12 Liu H. et al. Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. Nat Genet 47 267-271. 2015;
    PubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 17 Cader MZ. et al. C13orf31 (FAMIN) is a central regulator of immunometabolic function.. Nature immunology 2016; DOI: doi:10.1038/ni.3532.
    CrossrefGoogle Scholar