Literature DB >> 24472623

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

Karin Chen1, Wilfred Wu2, Divij Mathew3, Yuhua Zhang4, Sarah K Browne5, Lindsey B Rosen5, Meghann P McManus6, Michael A Pulsipher6, Mark Yandell2, John F Bohnsack7, Lynn B Jorde2, Luigi D Notarangelo8, Jolan E Walter9.   

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Year:  2014        PMID： 24472623      PMCID： PMC4107635          DOI： 10.1016/j.jaci.2013.11.038

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


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  9 in total

Review 1.  The long quest for neonatal screening for severe combined immunodeficiency.

Authors:  Rebecca H Buckley
Journal:  J Allergy Clin Immunol       Date:  2012-01-24       Impact factor: 10.793

Review 2.  RAG-dependent primary immunodeficiencies.

Authors:  Cristina Sobacchi; Veronica Marrella; Francesca Rucci; Paolo Vezzoni; Anna Villa
Journal:  Hum Mutat       Date:  2006-12       Impact factor: 4.878

Review 3.  More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

Authors:  Tim Niehues; Ruy Perez-Becker; Catharina Schuetz
Journal:  Clin Immunol       Date:  2010-02-20       Impact factor: 3.969

4.  Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

Authors:  Elizabeth Mannino Avila; Gulbu Uzel; Amy Hsu; Joshua D Milner; Maria L Turner; Stefania Pittaluga; Alexandra F Freeman; Steven M Holland
Journal:  Pediatrics       Date:  2010-10-18       Impact factor: 7.124

Review 5.  Recombination centres and the orchestration of V(D)J recombination.

Authors:  David G Schatz; Yanhong Ji
Journal:  Nat Rev Immunol       Date:  2011-03-11       Impact factor: 53.106

6.  Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia.

Authors:  Peter D Burbelo; Sarah K Browne; Elizabeth P Sampaio; Giuseppe Giaccone; Rifat Zaman; Ervand Kristosturyan; Arun Rajan; Li Ding; Kathryn H Ching; Arlene Berman; Joao B Oliveira; Amy P Hsu; Caitlin M Klimavicz; Michael J Iadarola; Steven M Holland
Journal:  Blood       Date:  2010-08-17       Impact factor: 22.113

7.  Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.

Authors:  Antonia Kwan; Joseph A Church; Morton J Cowan; Rajni Agarwal; Neena Kapoor; Donald B Kohn; David B Lewis; Sean A McGhee; Theodore B Moore; E Richard Stiehm; Matthew Porteus; Constantino P Aznar; Robert Currier; Fred Lorey; Jennifer M Puck
Journal:  J Allergy Clin Immunol       Date:  2013-07       Impact factor: 10.793

8.  Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1.

Authors:  Anthony Meager; Kumuthini Visvalingam; Pärt Peterson; Kaidi Möll; Astrid Murumägi; Kai Krohn; Petra Eskelin; Jaakko Perheentupa; Eystein Husebye; Yoshihisa Kadota; Nick Willcox
Journal:  PLoS Med       Date:  2006-07       Impact factor: 11.069

9.  A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.

Authors:  Jean-Pierre de Villartay; Annick Lim; Hamoud Al-Mousa; Sophie Dupont; Julie Déchanet-Merville; Edith Coumau-Gatbois; Marie-Lise Gougeon; Arnaud Lemainque; Céline Eidenschenk; Emmanuelle Jouanguy; Laurent Abel; Jean-Laurent Casanova; Alain Fischer; Françoise Le Deist
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808
  9 in total
  24 in total

1.  A Toddler With Rash, Encephalopathy, and Hemolytic Anemia.

Authors:  Christiana Smith; Cullen Dutmer; D Scott Schmid; Megan K Dishop; William J Bellini; Erwin W Gelfand; Edwin J Asturias
Journal:  J Pediatric Infect Dis Soc       Date:  2015-05-28       Impact factor: 3.164

2.  Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.

Authors:  Cullen M Dutmer; Edwin J Asturias; Christiana Smith; Megan K Dishop; D Scott Schmid; William J Bellini; Irit Tirosh; Yu Nee Lee; Luigi D Notarangelo; Erwin W Gelfand
Journal:  J Clin Immunol       Date:  2015-10-29       Impact factor: 8.317

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

Authors:  Jolan E Walter; Mindy S Lo; Katalin Kis-Toth; Irit Tirosh; Francesco Frugoni; Yu Nee Lee; Krisztian Csomos; Karin Chen; Shiv Pillai; Jonathan Dunham; George C Tsokos; Eline T Luning Prak; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2014-10-11       Impact factor: 10.793

Review 4.  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

5.  Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.

Authors:  Sarah E Henrickson; Jolan E Walter; Colin Quinn; Jennifer A Kanakry; Tanya Bardakjian; Dimana Dimitrova; Boglarka Ujhazi; Krisztian Csomos; Marita Bosticardo; Kerry Dobbs; MacLean Nasrallah; Luigi D Notarangelo; Steven M Holland; Olajumoke Fadugba
Journal:  J Clin Immunol       Date:  2018-08-30       Impact factor: 8.317

Review 6.  Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.

Authors:  Tami John; Jolan E Walter; Catherina Schuetz; Karin Chen; Roshini S Abraham; Carmem Bonfim; Thomas G Boyce; Avni Y Joshi; Elizabeth Kang; Beatriz Tavares Costa Carvalho; Arash Mahajerin; Diane Nugent; Geetha Puthenveetil; Amit Soni; Helen Su; Morton J Cowan; Luigi Notarangelo; David Buchbinder
Journal:  J Clin Immunol       Date:  2016-08-18       Impact factor: 8.317

Review 7.  Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies.

Authors:  Jolan E Walter; Jocelyn R Farmer; Zsofia Foldvari; Troy R Torgerson; Megan A Cooper
Journal:  J Allergy Clin Immunol Pract       Date:  2016 Nov - Dec

8.  Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

Authors:  Attila Kumánovics; Yu Nee Lee; Devin W Close; Emily M Coonrod; Boglarka Ujhazi; Karin Chen; Daniel G MacArthur; Gergely Krivan; Luigi D Notarangelo; Jolan E Walter
Journal:  J Allergy Clin Immunol       Date:  2016-09-05       Impact factor: 10.793

Review 9.  Human RAG mutations: biochemistry and clinical implications.

Authors:  Luigi D Notarangelo; Min-Sung Kim; Jolan E Walter; Yu Nee Lee
Journal:  Nat Rev Immunol       Date:  2016-03-21       Impact factor: 53.106

Review 10.  Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.

Authors:  Markus G Seidel
Journal:  Blood       Date:  2014-08-27       Impact factor: 22.113
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