Literature DB >> 25312763

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis.

Jolan E Walter1, Mindy S Lo2, Katalin Kis-Toth3, Irit Tirosh2, Francesco Frugoni2, Yu Nee Lee2, Krisztian Csomos4, Karin Chen5, Shiv Pillai6, Jonathan Dunham7, George C Tsokos3, Eline T Luning Prak8, Luigi D Notarangelo9.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25312763      PMCID： PMC4289116          DOI： 10.1016/j.jaci.2014.07.063

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


× No keyword cloud information.
  11 in total

1.  Disturbed peripheral B lymphocyte homeostasis in systemic lupus erythematosus.

Authors:  M Odendahl; A Jacobi; A Hansen; E Feist; F Hiepe; G R Burmester; P E Lipsky; A Radbruch; T Dörner
Journal:  J Immunol       Date:  2000-11-15       Impact factor: 5.422

Review 2.  Targeting BLyS in rheumatic disease: the sometimes-bumpy road from bench to bedside.

Authors:  William Stohl; Jean L Scholz; Michael P Cancro
Journal:  Curr Opin Rheumatol       Date:  2011-05       Impact factor: 5.006

3.  Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.

Authors:  Jolan E Walter; Francesca Rucci; Laura Patrizi; Mike Recher; Stephan Regenass; Tiziana Paganini; Marton Keszei; Itai Pessach; Philipp A Lang; Pietro Luigi Poliani; Silvia Giliani; Waleed Al-Herz; Morton J Cowan; Jennifer M Puck; Jack Bleesing; Tim Niehues; Catharina Schuetz; Harry Malech; Suk See DeRavin; Fabio Facchetti; Andrew R Gennery; Emma Andersson; Naynesh R Kamani; JoAnn Sekiguchi; Hamid M Alenezi; Javier Chinen; Ghassan Dbaibo; Gehad ElGhazali; Adriano Fontana; Srdjan Pasic; Cynthia Detre; Cox Terhorst; Frederick W Alt; Luigi D Notarangelo
Journal:  J Exp Med       Date:  2010-06-14       Impact factor: 14.307

4.  Clinical and immunogenetic characterization of Mexican patients with 'rhupus'.

Authors:  J A Simón; J Granados; J Cabiedes; J Ruíz Morales; J Alcocer Varela
Journal:  Lupus       Date:  2002       Impact factor: 2.911

5.  Erosive arthritis in systemic lupus erythematosus: analysis of a distinct clinical and serological subset.

Authors:  M Richter Cohen; G Steiner; J S Smolen; D A Isenberg
Journal:  Br J Rheumatol       Date:  1998-04

6.  Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation.

Authors:  William Giblin; Monalisa Chatterji; Gerwin Westfield; Tehmina Masud; Brian Theisen; Hwei-Ling Cheng; Jeffrey DeVido; Frederick W Alt; David O Ferguson; David G Schatz; JoAnn Sekiguchi
Journal:  Blood       Date:  2009-01-06       Impact factor: 22.113

7.  An immunodeficiency disease with RAG mutations and granulomas.

Authors:  Catharina Schuetz; Kirsten Huck; Sonja Gudowius; Mosaad Megahed; Oliver Feyen; Bernd Hubner; Dominik T Schneider; Burkhard Manfras; Ulrich Pannicke; Rein Willemze; Ruth Knüchel; Ulrich Göbel; Ansgar Schulz; Arndt Borkhardt; Wilhelm Friedrich; Klaus Schwarz; Tim Niehues
Journal:  N Engl J Med       Date:  2008-05-08       Impact factor: 91.245

8.  Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.

Authors:  Karin Chen; Wilfred Wu; Divij Mathew; Yuhua Zhang; Sarah K Browne; Lindsey B Rosen; Meghann P McManus; Michael A Pulsipher; Mark Yandell; John F Bohnsack; Lynn B Jorde; Luigi D Notarangelo; Jolan E Walter
Journal:  J Allergy Clin Immunol       Date:  2014-01-25       Impact factor: 10.793

9.  Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.

Authors:  Pietro Luigi Poliani; Fabio Facchetti; Maria Ravanini; Andrew Richard Gennery; Anna Villa; Chaim M Roifman; Luigi D Notarangelo
Journal:  Blood       Date:  2009-05-04       Impact factor: 22.113

10.  Partial V(D)J recombination activity leads to Omenn syndrome.

Authors:  A Villa; S Santagata; F Bozzi; S Giliani; A Frattini; L Imberti; L B Gatta; H D Ochs; K Schwarz; L D Notarangelo; P Vezzoni; E Spanopoulou
Journal:  Cell       Date:  1998-05-29       Impact factor: 41.582
View more
  12 in total

Review 1.  New insights into the immunopathogenesis of systemic lupus erythematosus.

Authors:  George C Tsokos; Mindy S Lo; Patricia Costa Reis; Kathleen E Sullivan
Journal:  Nat Rev Rheumatol       Date:  2016-11-22       Impact factor: 20.543

Review 2.  Monogenic Lupus.

Authors:  Mindy S Lo
Journal:  Curr Rheumatol Rep       Date:  2016-12       Impact factor: 4.592

Review 3.  Advances in clinical immunology in 2015.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2016-12       Impact factor: 10.793

4.  Systemic lupus erythematosus as a genetic disease.

Authors:  Isaac T W Harley; Amr H Sawalha
Journal:  Clin Immunol       Date:  2022-02-09       Impact factor: 10.190

Review 5.  Monogenic systemic lupus erythematosus: insights in pathophysiology.

Authors:  Ezgi Deniz Batu
Journal:  Rheumatol Int       Date:  2018-05-15       Impact factor: 2.631

6.  Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Authors:  Irit Tirosh; Yasuhiro Yamazaki; Francesco Frugoni; Francesca A Ververs; Eric J Allenspach; Yu Zhang; Siobhan Burns; Waleed Al-Herz; Lenora Noroski; Jolan E Walter; Andrew R Gennery; Mirjam van der Burg; Luigi D Notarangelo; Yu Nee Lee
Journal:  J Allergy Clin Immunol       Date:  2018-06-18       Impact factor: 10.793

Review 7.  Recent advances in understanding RAG deficiencies.

Authors:  Andrew Gennery
Journal:  F1000Res       Date:  2019-02-04

8.  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 9.  Monogenic Lupus: A Developing Paradigm of Disease.

Authors:  Jessie M Alperin; Lourdes Ortiz-Fernández; Amr H Sawalha
Journal:  Front Immunol       Date:  2018-10-30       Impact factor: 7.561

Review 10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.