Literature DB >> 22841008

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

Janet Chou, Rima Hanna-Wakim, Irit Tirosh, Jennifer Kane, David Fraulino, Yu Nee Lee, Soha Ghanem, Iman Mahfouz, André Mégarbané, Gérard Lefranc, Adlette Inati, Ghassan Dbaibo, Silvia Giliani, Luigi D Notarangelo, Raif S Geha, Michel J Massaad.   

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Year:  2012        PMID： 22841008      PMCID： PMC3511613          DOI： 10.1016/j.jaci.2012.06.012

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


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  9 in total

Review 1.  Clinical consequences of defects in B-cell development.

Authors:  Andre M Vale; Harry W Schroeder
Journal:  J Allergy Clin Immunol       Date:  2010-04       Impact factor: 10.793

2.  Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

Authors:  Suk See De Ravin; Edward W Cowen; Kol A Zarember; Narda L Whiting-Theobald; Douglas B Kuhns; Netanya G Sandler; Daniel C Douek; Stefania Pittaluga; Pietro L Poliani; Yu Nee Lee; Luigi D Notarangelo; Lei Wang; Frederick W Alt; Elizabeth M Kang; Joshua D Milner; Julie E Niemela; Mary Fontana-Penn; Sara H Sinal; Harry L Malech
Journal:  Blood       Date:  2010-05-20       Impact factor: 22.113

3.  Repair of chromosomal RAG-mediated DNA breaks by mutant RAG proteins lacking phosphatidylinositol 3-like kinase consensus phosphorylation sites.

Authors:  Eric J Gapud; Baeck-Seung Lee; Grace K Mahowald; Craig H Bassing; Barry P Sleckman
Journal:  J Immunol       Date:  2011-07-08       Impact factor: 5.422

Review 4.  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

5.  Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection.

Authors:  Ilan Dalal; Uri Tabori; Bela Bielorai; Hana Golan; Eli Rosenthal; Ninette Amariglio; Gidi Rechavi; Amos Toren
Journal:  Clin Immunol       Date:  2005-04       Impact factor: 3.969

Review 6.  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

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.  Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

Authors:  Chrystelle Couëdel; Christopher Roman; Alison Jones; Paolo Vezzoni; Anna Villa; Patricia Cortes
Journal:  J Clin Invest       Date:  2010-03-15       Impact factor: 14.808

9.  A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.

Authors:  Veronica Marrella; Pietro Luigi Poliani; Anna Casati; Francesca Rucci; Laura Frascoli; Marie-Lise Gougeon; Brigitte Lemercier; Marita Bosticardo; Maria Ravanini; Manuela Battaglia; Maria Grazia Roncarolo; Marina Cavazzana-Calvo; Fabio Facchetti; Luigi D Notarangelo; Paolo Vezzoni; Fabio Grassi; Anna Villa
Journal:  J Clin Invest       Date:  2007-05       Impact factor: 14.808
  9 in total
  22 in total

1.  Compound heterozygous RAG2 mutations mimicking hyper IgM syndrome.

Authors:  A G L Riccetto; M Buzolin; J F Fernandes; F Traina; M L R Barjas-de-Castro; M T N Silva; J B Oliveira; M M Vilela
Journal:  J Clin Immunol       Date:  2013-10-31       Impact factor: 8.317

2.  Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.

Authors:  Mona Hedayat; Michel J Massaad; Yu Nee Lee; Mary Ellen Conley; Jordan S Orange; Toshiro K Ohsumi; Waleed Al-Herz; Luigi D Notarangelo; Raif S Geha; Janet Chou
Journal:  J Allergy Clin Immunol       Date:  2014-06-27       Impact factor: 10.793

Review 3.  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

4.  The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Authors:  Arnon Broides; Amarilla B Mandola; Jacov Levy; Baruch Yerushalmi; Vered Pinsk; Michal Eldan; George Shubinsky; Nurit Hadad; Rachel Levy; Amit Nahum; Miriam Ben-Harosh; Atar Lev; Amos Simon; Raz Somech
Journal:  Immunol Res       Date:  2017-06       Impact factor: 2.829

Review 5.  The hyper IgM syndromes.

Authors:  Nashmia Qamar; Ramsay L Fuleihan
Journal:  Clin Rev Allergy Immunol       Date:  2014-04       Impact factor: 8.667

Review 6.  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 7.  Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies.

Authors:  Craig Platt; Raif S Geha; Janet Chou
Journal:  J Allergy Clin Immunol       Date:  2013-10-05       Impact factor: 10.793

8.  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 9.  Partial defects of T-cell development associated with poor T-cell function.

Authors:  Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-03-05       Impact factor: 10.793

Review 10.  RAG Deficiency: Two Genes, Many Diseases.

Authors:  Ottavia M Delmonte; Catharina Schuetz; Luigi D Notarangelo
Journal:  J Clin Immunol       Date:  2018-07-25       Impact factor: 8.317
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