Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

Arthritis and Rheumatism
Georgia RamantaniMin Ae Lee-Kirsch

Abstract

Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is characterized by basal ganglia calcifications, loss of white matter, cerebrospinal fluid (CSF) lymphocytosis, and elevated interferon-alpha levels in the CSF. Studies have shown that AGS is an autosomal-recessive disease linked to mutations in 5 genes, encoding the 3'-repair DNA exonuclease 1 (TREX1), the 3 subunits of ribonuclease H2 (RNASEH2A-C), and sterile alpha motif domain and HD domain-containing protein 1 (SAMHD1). In this study we further characterized the phenotypic spectrum of this disease. Clinical and laboratory data were obtained from 26 patients fulfilling the clinical diagnostic criteria for AGS. Genomic DNA was screened for mutations in all 5 AGS genes by direct sequencing, and sera were analyzed for autoantibodies. In 20 patients with AGS, 20 mutations, 12 of which were novel, were identified in all 5 AGS genes. Clinical and laboratory investigations revealed a high prevalence of features (some not previously described in patients with AGS) that are commonly seen in patients with systemic lupus erythematosus (SLE), such as thrombocytopenia, leukocytopenia, antinuclear antibodies, erythematous lesions...Continue Reading

References

Apr 1, 1988·Journal of the Neurological Sciences·P LebonJ Aicardi
Nov 1, 1982·Arthritis and Rheumatism·E M TanR J Winchester
Apr 1, 1996·Lupus·A A RaymondN C Kong
Dec 16, 1998·Annals of Neurology·F GoutièresP Lebon
Jul 3, 1999·The Journal of Biological Chemistry·D J Mazur, F W Perrino
Oct 18, 2001·Current Opinion in Rheumatology·T W HuizingaM A van Buchem
Oct 9, 2002·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Giovanni LanziStefano D'Arrigo
Aug 12, 2004·Acta Paediatrica·G M H Abdel-SalamN A Meguid
Oct 30, 2004·Current Opinion in Immunology·Emily C BaechlerTimothy W Behrens
Sep 1, 2006·PLoS Medicine·Dennis McGonagle, Michael F McDermott
Dec 2, 2006·Nature Reviews. Genetics·Peter K Gregersen, Timothy W Behrens
Apr 19, 2007·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Min Ae Lee-KirschNorbert Hubner
Aug 30, 2008·Cell·Daniel B StetsonRuslan Medzhitov
May 30, 2009·Dermatology : International Journal for Clinical and Investigative Dermatology·C GüntherM A Lee-Kirsch
Jun 16, 2009·Current Opinion in Rheumatology·Lars RönnblomMaija-Leena Eloranta

❮ Previous
Next ❯

Citations

Feb 2, 2013·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Victoria TünglerMin Ae Lee-Kirsch
Jun 8, 2013·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Björn Rabe
May 29, 2012·Pediatric Radiology·L RosslerJ Schaper
Nov 19, 2013·Best Practice & Research. Clinical Rheumatology·Clara Malattia, Alberto Martini
Jan 29, 2011·Genes and Immunity·B NamjouJ P Atkinson
Nov 10, 2010·Nature Reviews. Rheumatology·Yun Deng, Betty P Tsao
Jun 5, 2013·Nature Reviews. Rheumatology·José C CrispínGeorge C Tsokos
Dec 24, 2010·The Journal of Biological Chemistry·Martin A M ReijnsAndrew P Jackson
Aug 3, 2011·The Journal of Biological Chemistry·Jason M FyeFred W Perrino
Aug 24, 2011·Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research·Keith B Elkon, Vivian V Stone
Jan 20, 2011·Nucleic Acids Research·Doryen BubeckAndrew P Jackson
Jul 27, 2012·Current Opinion in Rheumatology·Keith B Elkon, Alice Wiedeman
Dec 21, 2012·Annals of the Rheumatic Diseases·Ornella Josephine Rullo, Betty P Tsao
Jun 29, 2010·AJNR. American Journal of Neuroradiology·G RamantaniM A Lee-Kirsch
Sep 10, 2013·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Georgia RamantaniMin Ae Lee-Kirsch
Mar 16, 2013·Trends in Molecular Medicine·Thomas RauenGeorge C Tsokos
Jan 8, 2013·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Martin AringerMin Ae Lee-Kirsch
Aug 28, 2014·Nucleic Acids Research·Catherine J Potenski, Hannah L Klein
Jun 8, 2014·Annals of the Rheumatic Diseases·Eloy CuadradoTaco W Kuijpers
Dec 1, 2012·La Revue de médecine interne·B Bader-MeunierF Rieux-Laucat
Apr 24, 2012·Brain & Development·Atsushi KameiShoichi Chida
Dec 2, 2015·Seminars in Immunopathology·Alexander A NavariniLars E French
Jan 9, 2016·Zeitschrift für Rheumatologie·C GüntherM A Lee-Kirsch
Nov 14, 2013·BioMed Research International·Nadia BarizzoneSandra D'Alfonso
Apr 5, 2013·Arthritis Care & Research·Reut GurionAngela B Robinson
Aug 28, 2014·Retrovirology·Joseph A HollenbaughBaek Kim
Nov 26, 2013·The Journal of Investigative Dermatology·Katrin PeschkeClaudia Günther
Aug 12, 2014·Biochemical Society Transactions·Martin A M Reijns, Andrew P Jackson
May 23, 2015·Seminars in Immunopathology·Min Ae Lee-KirschAxel Roers
Jun 9, 2015·Nature Reviews. Immunology·Yanick J Crow, Nicolas Manel
Feb 29, 2016·Reumatología clinica·Francisco Rivas-Larrauri, Marco Antonio Yamazaki-Nakashimada
May 15, 2015·Journal of Immunology Research·César Pacheco-Tena, Susana Aideé González-Chávez
Feb 24, 2015·Annual Review of Immunology·Adriana Almeida de JesusRaphaela Goldbach-Mansky
Jul 6, 2014·American Journal of Human Genetics·Hirotsugu OdaToshio Heike
Mar 4, 2015·Journal of Clinical Immunology·Gillian I RiceYanick J Crow
Feb 11, 2015·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·Claudia Günther

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

CSF & Lymphatic System

This feed focuses on Cerebral Spinal Fluid (CSF) and the lymphatic system. Discover the latest papers using imaging techniques to track CSF outflow into the lymphatic system in animal models.

Basal Ganglia Cerebrovascular Disease

Basal ganglia cerebrovascular disease is a condition where the blood vessels in the basal ganglia are damaged or malfunction. Discover the latest research on basal ganglia cerebrovascular disease here.