Literature DB >> 29766256

Monogenic systemic lupus erythematosus: insights in pathophysiology.

Ezgi Deniz Batu1.   

Abstract

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 the main phases of immune dysregulation in SLE. The aim of this review is to summarize the current knowledge on monogenic SLE with the implications of the respective genes on disease pathogenesis. A comprehensive literature search on monogenic SLE was conducted utilizing the Cochrane Library and MEDLINE/PubMed databases. The main affected pathways in disease pathogenesis are identified as follows: complement system, apoptosis, nucleic acid degradation, nucleic acid sensing, self-tolerance, and type I interferon production. Further studies on monogenic SLE can make precision medicine possible for SLE by increasing our understanding of disease pathogenesis.

Entities:  

Keywords:  Apoptosis; Complement system; Monogenic SLE; Self-tolerance; Systemic lupus erythematosus

Mesh：

Substances：

Year:  2018        PMID： 29766256     DOI： 10.1007/s00296-018-4048-7

Source DB:  PubMed          Journal:  Rheumatol Int        ISSN： 0172-8172            Impact factor:   2.631


  156 in total

1.  Structural insights into a human anti-IFN antibody exerting therapeutic potential for systemic lupus erythematosus.

Authors:  Songying Ouyang; Bin Gong; Jin-Zhi Li; Li-Xia Zhao; Wei Wu; Fu-Shun Zhang; Lina Sun; Shu-Jun Wang; Meng Pan; Chuan Li; Wenguang Liang; Neil Shaw; Jie Zheng; Guo-Ping Zhao; Ying Wang; Zhi-Jie Liu; Mifang Liang
Journal:  J Mol Med (Berl)       Date:  2012-02-04       Impact factor: 4.599

Review 2.  Cytosolic nucleic acid sensors and innate immune regulation.

Authors:  Daisuke Ori; Motoya Murase; Taro Kawai
Journal:  Int Rev Immunol       Date:  2017-03-23       Impact factor: 5.311

Review 3.  Functions and regulation of RNA editing by ADAR deaminases.

Authors:  Kazuko Nishikura
Journal:  Annu Rev Biochem       Date:  2010       Impact factor: 23.643

4.  Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

Authors:  Geoffrey Hom; Robert R Graham; Barmak Modrek; Kimberly E Taylor; Ward Ortmann; Sophie Garnier; Annette T Lee; Sharon A Chung; Ricardo C Ferreira; P V Krishna Pant; Dennis G Ballinger; Roman Kosoy; F Yesim Demirci; M Ilyas Kamboh; Amy H Kao; Chao Tian; Iva Gunnarsson; Anders A Bengtsson; Solbritt Rantapää-Dahlqvist; Michelle Petri; Susan Manzi; Michael F Seldin; Lars Rönnblom; Ann-Christine Syvänen; Lindsey A Criswell; Peter K Gregersen; Timothy W Behrens
Journal:  N Engl J Med       Date:  2008-01-20       Impact factor: 91.245

5.  Trex1 prevents cell-intrinsic initiation of autoimmunity.

Authors:  Daniel B Stetson; Joan S Ko; Thierry Heidmann; Ruslan Medzhitov
Journal:  Cell       Date:  2008-08-22       Impact factor: 41.582

Review 6.  Enchondromatosis revisited: new classification with molecular basis.

Authors:  Andrea Superti-Furga; Jürgen Spranger; Gen Nishimura
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-07-12       Impact factor: 3.908

Review 7.  Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.

Authors:  M A Lee-Kirsch; C Wolf; C Günther
Journal:  Clin Exp Immunol       Date:  2014-01       Impact factor: 4.330

8.  Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:  Yanick J Crow; Diana S Chase; Johanna Lowenstein Schmidt; Marcin Szynkiewicz; Gabriella M A Forte; Hannah L Gornall; Anthony Oojageer; Beverley Anderson; Amy Pizzino; Guy Helman; Mohamed S Abdel-Hamid; Ghada M Abdel-Salam; Sam Ackroyd; Alec Aeby; Guillermo Agosta; Catherine Albin; Stavit Allon-Shalev; Montse Arellano; Giada Ariaudo; Vijay Aswani; Riyana Babul-Hirji; Eileen M Baildam; Nadia Bahi-Buisson; Kathryn M Bailey; Christine Barnerias; Magalie Barth; Roberta Battini; Michael W Beresford; Geneviève Bernard; Marika Bianchi; Thierry Billette de Villemeur; Edward M Blair; Miriam Bloom; Alberto B Burlina; Maria Luisa Carpanelli; Daniel R Carvalho; Manuel Castro-Gago; Anna Cavallini; Cristina Cereda; Kate E Chandler; David A Chitayat; Abigail E Collins; Concepcion Sierra Corcoles; Nuno J V Cordeiro; Giovanni Crichiutti; Lyvia Dabydeen; Russell C Dale; Stefano D'Arrigo; Christian G E L De Goede; Corinne De Laet; Liesbeth M H De Waele; Ines Denzler; Isabelle Desguerre; Koenraad Devriendt; Maja Di Rocco; Michael C Fahey; Elisa Fazzi; Colin D Ferrie; António Figueiredo; Blanca Gener; Cyril Goizet; Nirmala R Gowrinathan; Kalpana Gowrishankar; Donncha Hanrahan; Bertrand Isidor; Bülent Kara; Nasaim Khan; Mary D King; Edwin P Kirk; Ram Kumar; Lieven Lagae; Pierre Landrieu; Heinz Lauffer; Vincent Laugel; Roberta La Piana; Ming J Lim; Jean-Pierre S-M Lin; Tarja Linnankivi; Mark T Mackay; Daphna R Marom; Charles Marques Lourenço; Shane A McKee; Isabella Moroni; Jenny E V Morton; Marie-Laure Moutard; Kevin Murray; Rima Nabbout; Sheela Nampoothiri; Noemi Nunez-Enamorado; Patrick J Oades; Ivana Olivieri; John R Ostergaard; Belén Pérez-Dueñas; Julie S Prendiville; Venkateswaran Ramesh; Magnhild Rasmussen; Luc Régal; Federica Ricci; Marlène Rio; Diana Rodriguez; Agathe Roubertie; Elisabetta Salvatici; Karin A Segers; Gyanranjan P Sinha; Doriette Soler; Ronen Spiegel; Tommy I Stödberg; Rachel Straussberg; Kathryn J Swoboda; Mohnish Suri; Uta Tacke; Tiong Y Tan; Johann te Water Naude; Keng Wee Teik; Maya Mary Thomas; Marianne Till; Davide Tonduti; Enza Maria Valente; Rudy Noel Van Coster; Marjo S van der Knaap; Grace Vassallo; Raymon Vijzelaar; Julie Vogt; Geoffrey B Wallace; Evangeline Wassmer; Hannah J Webb; William P Whitehouse; Robyn N Whitney; Maha S Zaki; Sameer M Zuberi; John H Livingston; Flore Rozenberg; Pierre Lebon; Adeline Vanderver; Simona Orcesi; Gillian I Rice
Journal:  Am J Med Genet A       Date:  2015-01-16       Impact factor: 2.802

Review 9.  Meningococcal disease and the complement system.

Authors:  Lisa A Lewis; Sanjay Ram
Journal:  Virulence       Date:  2013-10-08       Impact factor: 5.882

10.  Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.

Authors:  Karen J Mackenzie; Paula Carroll; Laura Lettice; Žygimantė Tarnauskaitė; Kaalak Reddy; Flora Dix; Ailsa Revuelta; Erika Abbondati; Rachel E Rigby; Björn Rabe; Fiona Kilanowski; Graeme Grimes; Adeline Fluteau; Paul S Devenney; Robert E Hill; Martin Am Reijns; Andrew P Jackson
Journal:  EMBO J       Date:  2016-02-22       Impact factor: 11.598
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  7 in total

Review 1.  DNA Damage and Deficiencies in the Mechanisms of Its Repair: Implications in the Pathogenesis of Systemic Lupus Erythematosus.

Authors:  Martha Paola Mireles-Canales; Susana Aideé González-Chávez; Celia Maria Quiñonez-Flores; Ever Adán León-López; César Pacheco-Tena
Journal:  J Immunol Res       Date:  2018-07-12       Impact factor: 4.818

2.  Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Authors:  Irit Tirosh; Shiri Spielman; Ortal Barel; Reut Ram; Tali Stauber; Gideon Paret; Marina Rubinsthein; Itai M Pessach; Maya Gerstein; Yair Anikster; Rachel Shukrun; Adi Dagan; Katerina Adler; Ben Pode-Shakked; Alexander Volkov; Marina Perelman; Shoshana Greenberger; Raz Somech; Einat Lahav; Amar J Majmundar; Shai Padeh; Friedhelm Hildebrandt; Asaf Vivante
Journal:  Pediatr Rheumatol Online J       Date:  2019-07-30       Impact factor: 3.054

Review 3.  A glimpse into the future of systemic lupus erythematosus.

Authors:  Martin Aringer; Marta E Alarcón-Riquelme; Megan Clowse; Guillermo J Pons-Estel; Edward M Vital; Maria Dall'Era
Journal:  Ther Adv Musculoskelet Dis       Date:  2022-03-30       Impact factor: 5.346

Review 4.  Belimumab in childhood systemic lupus erythematosus: A review of available data.

Authors:  Feng Chen; Ying Zheng; Xinying Chen; Zhanfa Wen; Youjia Xu; Jinghua Yang; Kaisi Xu
Journal:  Front Immunol       Date:  2022-07-27       Impact factor: 8.786

5.  Haplotypes of FOXP3 genetic variants are associated with susceptibility, autoantibodies, and TGF-β1 in patients with systemic lupus erythematosus.

Authors:  Nicole Perugini Stadtlober; Tamires Flauzino; Lorena Flor da Rosa Franchi Santos; Tatiana Mayumi Veiga Iriyoda; Neide Tomimura Costa; Marcell Alysson Batisti Lozovoy; Isaias Dichi; Edna Maria Vissoci Reiche; Andréa Name Colado Simão
Journal:  Sci Rep       Date:  2021-03-08       Impact factor: 4.379

Review 6.  Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.

Authors:  Bulent Kara; Zelal Ekinci; Sezgin Sahin; Mesut Gungor; Ayfer Sakarya Gunes; Kubra Ozturk; Amra Adrovic; Ayse Cefle; Murat Inanç; Ahmet Gul; Ozgur Kasapcopur
Journal:  Rheumatol Int       Date:  2020-07-20       Impact factor: 2.631

Review 7.  New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond.

Authors:  Erkan Demirkaya; Sezgin Sahin; Micol Romano; Qing Zhou; Ivona Aksentijevich
Journal:  J Clin Med       Date:  2020-03-05       Impact factor: 4.241
  7 in total

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