Literature DB >> 23891352

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.

Lauren A Henderson1, Francesco Frugoni1, Gregory Hopkins2, Helen de Boer2, Sung-Yun Pai2,3, Yu Nee Lee1, Jolan E Walter1,4, Melissa M Hazen1, Luigi D Notarangelo1,5,6.   

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Year:  2013        PMID： 23891352      PMCID： PMC3874115          DOI： 10.1016/j.jaci.2013.06.032

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


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  9 in total

1.  A variant of SCID with specific immune responses and predominance of gamma delta T cells.

Authors:  Stephan Ehl; Klaus Schwarz; Anselm Enders; Ulrich Duffner; Ulrich Pannicke; Joachim Kühr; Françoise Mascart; Annette Schmitt-Graeff; Charlotte Niemeyer; Paul Fisch
Journal:  J Clin Invest       Date:  2005-10-06       Impact factor: 14.808

2.  Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.

Authors:  Taco W Kuijpers; Hanna Ijspeert; Ester M M van Leeuwen; Machiel H Jansen; Mette D Hazenberg; Kees C Weijer; Rene A W van Lier; Mirjam van der Burg
Journal:  Blood       Date:  2011-04-18       Impact factor: 22.113

3.  RAG mutations in human B cell-negative SCID.

Authors:  K Schwarz; G H Gauss; L Ludwig; U Pannicke; Z Li; D Lindner; W Friedrich; R A Seger; T E Hansen-Hagge; S Desiderio; M R Lieber; C R Bartram
Journal:  Science       Date:  1996-10-04       Impact factor: 47.728

4.  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

5.  Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.

Authors:  Line Ohm-Laursen; Christian Nielsen; Niels Fisker; Søren Thue Lillevang; Torben Barington
Journal:  J Clin Immunol       Date:  2008-07-01       Impact factor: 8.317

6.  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

7.  V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Authors:  A Villa; C Sobacchi; L D Notarangelo; F Bozzi; M Abinun; T G Abrahamsen; P D Arkwright; M Baniyash; E G Brooks; M E Conley; P Cortes; M Duse; A Fasth; A M Filipovich; A J Infante; A Jones; E Mazzolari; S M Muller; S Pasic; G Rechavi; M G Sacco; S Santagata; M L Schroeder; R Seger; D Strina; A Ugazio; J Väliaho; M Vihinen; L B Vogler; H Ochs; P Vezzoni; W Friedrich; K Schwarz
Journal:  Blood       Date:  2001-01-01       Impact factor: 22.113

8.  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.  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
  9 in total
  35 in total

Review 1.  RAG gene defects at the verge of immunodeficiency and immune dysregulation.

Authors:  Anna Villa; Luigi D Notarangelo
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

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.  Characterization of T and B cell repertoire diversity in patients with RAG deficiency.

Authors:  Yu Nee Lee; Francesco Frugoni; Kerry Dobbs; Irit Tirosh; Likun Du; Francesca A Ververs; Heng Ru; Lisa Ott de Bruin; Mehdi Adeli; Jacob H Bleesing; David Buchbinder; Manish J Butte; Caterina Cancrini; Karin Chen; Sharon Choo; Reem A Elfeky; Andrea Finocchi; Ramsay L Fuleihan; Andrew R Gennery; Dalia H El-Ghoneimy; Lauren A Henderson; Waleed Al-Herz; Elham Hossny; Robert P Nelson; Sung-Yun Pai; Niraj C Patel; Shereen M Reda; Pere Soler-Palacin; Raz Somech; Paolo Palma; Hao Wu; Silvia Giliani; Jolan E Walter; Luigi D Notarangelo
Journal:  Sci Immunol       Date:  2016-12-16

Review 4.  Autoimmunity and primary immunodeficiency: two sides of the same coin?

Authors:  Reinhold E Schmidt; Bodo Grimbacher; Torsten Witte
Journal:  Nat Rev Rheumatol       Date:  2017-12-19       Impact factor: 20.543

Review 5.  The changing face of polyarteritis nodosa and necrotizing vasculitis.

Authors:  Seza Ozen
Journal:  Nat Rev Rheumatol       Date:  2017-05-11       Impact factor: 20.543

6.  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 7.  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 8.  Advances in basic and clinical immunology in 2013.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

Review 9.  Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.

Authors:  Dominique C Pichard; Alexandra F Freeman; Edward W Cowen
Journal:  J Am Acad Dermatol       Date:  2015-09       Impact factor: 11.527

Review 10.  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
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