Monogenic systemic lupus erythematosus: insights in pathophysiology.
作者： Ezgi Deniz Batu
DOI: 10.1007/S00296-018-4048-7
关键词: Cochrane Library 、 Immunology 、 Rheumatology 、 Medicine 、 Immune dysregulation 、 Pathophysiology 、 Internal medicine 、 Complex disease 、 Pathogenesis 、 Precision medicine 、 Type I interferon production
摘要: Systemic lupus erythematosus (SLE) is a complex disease with different genetic, immunologic, and environmental factors contributing to the pathogenesis. Monogenic SLE could help us understand main phases of immune dysregulation in SLE. The aim this review summarize current knowledge on monogenic implications respective genes A comprehensive literature search was conducted utilizing Cochrane Library MEDLINE/PubMed databases. affected pathways pathogenesis are identified as follows: complement system, apoptosis, nucleic acid degradation, sensing, self-tolerance, type I interferon production. Further studies can make precision medicine possible for by increasing our understanding
springer.com
sci-hub.se 参考文章(159)
Herman Jh, Mooney E, Trapp Rg, Coleman Th, Forristal J, Hereditary complement (C6) deficiency associated with systemic lupus erythematosus, Sjögren's syndrome and hyperthyroidism. The Journal of Rheumatology. ,vol. 14, pp. 1030- 1033 ,(1987)
T K van den Berg, C D Dijkstra, K Yoshida, Two functionally different follicular dendritic cells in secondary lymphoid follicles of mouse spleen, as revealed by CR1/2 and FcR gamma II-mediated immune-complex trapping. Immunology. ,vol. 80, pp. 34- 39 ,(1993)
Mark J. Walport, Complement. First of two parts. The New England Journal of Medicine. ,vol. 344, pp. 1058- 1066 ,(2001) , 10.1056/NEJM200104053441406
Ayca Kiykim, Ismail Ogulur, Safa Baris, Elisabeth Salzer, Elif Karakoc-Aydiner, Ahmet Oguzhan Ozen, Wojciech Garncarz, Tatjana Hirschmugl, Ana Krolo, Ayse Deniz Yucelten, Kaan Boztug, Isil B Barlan, Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency Journal of Clinical Immunology. ,vol. 35, pp. 523- 526 ,(2015) , 10.1007/S10875-015-0178-9
Jean-Pierre de Villartay, V(D)J Recombination Deficiencies Advances in Experimental Medicine and Biology. ,vol. 650, pp. 46- 58 ,(2009) , 10.1007/978-1-4419-0296-2_4
Koji Yasutomo, Takahiko Horiuchi, Shoji Kagami, Hiroshi Tsukamoto, Chinami Hashimura, Maki Urushihara, Yasuhiro Kuroda, Mutation of DNASE1 in people with systemic lupus erythematosus Nature Genetics. ,vol. 28, pp. 313- 314 ,(2001) , 10.1038/91070
Ji-Hong Kim, Seung-Huyn Jung, Joon Seol Bae, Hye-Soon Lee, Seon-Hee Yim, So-Yeon Park, So-Young Bang, Hae-Jin Hu, Hyoung Doo Shin, Sang-Cheol Bae, Yeun-Jun Chung, Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women. Arthritis & Rheumatism. ,vol. 65, pp. 1055- 1063 ,(2013) , 10.1002/ART.37854
Yanick J. Crow, Nicolas Manel, Aicardi–Goutières syndrome and the type I interferonopathies Nature Reviews Immunology. ,vol. 15, pp. 429- 440 ,(2015) , 10.1038/NRI3850
M. A. Lee-Kirsch, C. Wolf, C. Günther, Aicardi-Goutières syndrome: a model disease for systemic autoimmunity. Clinical and Experimental Immunology. ,vol. 175, pp. 17- 24 ,(2014) , 10.1111/CEI.12160
Susana M. Cerritelli, Robert J. Crouch, Ribonuclease H: the enzymes in Eukaryotes FEBS Journal. ,vol. 276, pp. 1494- 1505 ,(2009) , 10.1111/J.1742-4658.2009.06908.X