Literature DB >> 27609655

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

Attila Kumánovics1, Yu Nee Lee2, Devin W Close3, Emily M Coonrod3, Boglarka Ujhazi4, Karin Chen5, Daniel G MacArthur6, Gergely Krivan7, Luigi D Notarangelo2, Jolan E Walter8.   

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Year:  2016        PMID： 27609655      PMCID： PMC5303162          DOI： 10.1016/j.jaci.2016.07.027

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


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  13 in total

1.  A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

Authors:  Hassan Abolhassani; Ning Wang; Asghar Aghamohammadi; Nima Rezaei; Yu Nee Lee; Francesco Frugoni; Luigi D Notarangelo; Qiang Pan-Hammarström; Lennart Hammarström
Journal:  J Allergy Clin Immunol       Date:  2014-07-02       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

3.  Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Authors:  Antonia Kwan; Roshini S Abraham; Robert Currier; Amy Brower; Karen Andruszewski; Jordan K Abbott; Mei Baker; Mark Ballow; Louis E Bartoshesky; Francisco A Bonilla; Charles Brokopp; Edward Brooks; Michele Caggana; Jocelyn Celestin; Joseph A Church; Anne Marie Comeau; James A Connelly; Morton J Cowan; Charlotte Cunningham-Rundles; Trivikram Dasu; Nina Dave; Maria T De La Morena; Ulrich Duffner; Chin-To Fong; Lisa Forbes; Debra Freedenberg; Erwin W Gelfand; Jaime E Hale; I Celine Hanson; Beverly N Hay; Diana Hu; Anthony Infante; Daisy Johnson; Neena Kapoor; Denise M Kay; Donald B Kohn; Rachel Lee; Heather Lehman; Zhili Lin; Fred Lorey; Aly Abdel-Mageed; Adrienne Manning; Sean McGhee; Theodore B Moore; Stanley J Naides; Luigi D Notarangelo; Jordan S Orange; Sung-Yun Pai; Matthew Porteus; Ray Rodriguez; Neil Romberg; John Routes; Mary Ruehle; Arye Rubenstein; Carlos A Saavedra-Matiz; Ginger Scott; Patricia M Scott; Elizabeth Secord; Christine Seroogy; William T Shearer; Subhadra Siegel; Stacy K Silvers; E Richard Stiehm; Robert W Sugerman; John L Sullivan; Susan Tanksley; Millard L Tierce; James Verbsky; Beth Vogel; Rosalyn Walker; Kelly Walkovich; Jolan E Walter; Richard L Wasserman; Michael S Watson; Geoffrey A Weinberg; Leonard B Weiner; Heather Wood; Anne B Yates; Jennifer M Puck; Vincent R Bonagura
Journal:  JAMA       Date:  2014-08-20       Impact factor: 56.272

4.  Crystal structure of the V(D)J recombinase RAG1-RAG2.

Authors:  Min-Sung Kim; Mikalai Lapkouski; Wei Yang; Martin Gellert
Journal:  Nature       Date:  2015-02-18       Impact factor: 49.962

5.  Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

Authors:  David Buchbinder; Rebecca Baker; Yu Nee Lee; Juan Ravell; Yu Zhang; Joshua McElwee; Diane Nugent; Emily M Coonrod; Jacob D Durtschi; Nancy H Augustine; Karl V Voelkerding; Krisztian Csomos; Lindsey Rosen; Sarah Browne; Jolan E Walter; Luigi D Notarangelo; Harry R Hill; Attila Kumánovics
Journal:  J Clin Immunol       Date:  2014-12-17       Impact factor: 8.317

6.  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

7.  Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Authors:  William T Shearer; Elizabeth Dunn; Luigi D Notarangelo; Christopher C Dvorak; Jennifer M Puck; Brent R Logan; Linda M Griffith; Donald B Kohn; Richard J O'Reilly; Thomas A Fleisher; Sung-Yun Pai; Caridad A Martinez; Rebecca H Buckley; Morton J Cowan
Journal:  J Allergy Clin Immunol       Date:  2013-11-28       Impact factor: 10.793

8.  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

9.  Structure of the RAG1 nonamer binding domain with DNA reveals a dimer that mediates DNA synapsis.

Authors:  Fang Fang Yin; Scott Bailey; C Axel Innis; Mihai Ciubotaru; Satwik Kamtekar; Thomas A Steitz; David G Schatz
Journal:  Nat Struct Mol Biol       Date:  2009-04-26       Impact factor: 15.369

10.  A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Authors:  Yu Nee Lee; Francesco Frugoni; Kerry Dobbs; Jolan E Walter; Silvia Giliani; Andrew R Gennery; Waleed Al-Herz; Elie Haddad; Francoise LeDeist; Jack H Bleesing; Lauren A Henderson; Sung-Yun Pai; Robert P Nelson; Dalia H El-Ghoneimy; Reem A El-Feky; Shereen M Reda; Elham Hossny; Pere Soler-Palacin; Ramsay L Fuleihan; Niraj C Patel; Michel J Massaad; Raif S Geha; Jennifer M Puck; Paolo Palma; Caterina Cancrini; Karin Chen; Mauno Vihinen; Frederick W Alt; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-11-28       Impact factor: 10.793
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  2 in total

1.  Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Authors:  Dylan Lawless; Christoph B Geier; Jocelyn R Farmer; Hana Lango Allen; Daniel Thwaites; Faranaz Atschekzei; Matthew Brown; David Buchbinder; Siobhan O Burns; Manish J Butte; Krisztian Csomos; Sri V V Deevi; William Egner; Stephan Ehl; Martha M Eibl; Olajumoke Fadugba; Zsofia Foldvari; Deanna M Green; Sarah E Henrickson; Steven M Holland; Tami John; Christian Klemann; Taco W Kuijpers; Fernando Moreira; Alexander Piller; Paula Rayner-Matthews; Neil D Romberg; Ravishankar Sargur; Reinhold E Schmidt; Claudia Schröder; Catharina Schuetz; Svetlana O Sharapova; Ken G C Smith; Georgios Sogkas; Carsten Speckmann; Kathleen Stirrups; Adrian J Thrasher; Hermann M Wolf; Luigi D Notarangelo; Rashida Anwar; Joan Boyes; Boglarka Ujhazi; James Thaventhiran; Jolan E Walter; Sinisa Savic
Journal:  J Allergy Clin Immunol       Date:  2018-03-02       Impact factor: 10.793

2.  The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Authors:  Svetlana O Sharapova; Małgorzata Skomska-Pawliszak; Yulia A Rodina; Beata Wolska-Kuśnierz; Nel Dabrowska-Leonik; Bozena Mikołuć; Olga E Pashchenko; Srdjan Pasic; Tomáš Freiberger; Tomáš Milota; Renata Formánková; Anna Szaflarska; Maciej Siedlar; Tadej Avčin; Gašper Markelj; Peter Ciznar; Krzysztof Kalwak; Sylwia Kołtan; Teresa Jackowska; Katarzyna Drabko; Alenka Gagro; Małgorzata Pac; Elissaveta Naumova; Snezhina Kandilarova; Katarzyna Babol-Pokora; Dzmitry S Varabyou; Barbara H Barendregt; Elena V Raykina; Tatiana V Varlamova; Anna V Pavlova; Hana Grombirikova; Maruša Debeljak; Irina V Mersiyanova; Anastasiia V Bondarenko; Liudmyla I Chernyshova; Larysa V Kostyuchenko; Marina N Guseva; Jelena Rascon; Audrone Muleviciene; Egle Preiksaitiene; Christoph B Geier; Alexander Leiss-Piller; Yasuhiro Yamazaki; Tomoki Kawai; Jolan E Walter; Irina V Kondratenko; Anna Šedivá; Mirjam van der Burg; Natalia B Kuzmenko; Luigi D Notarangelo; Ewa Bernatowska; Olga V Aleinikova
Journal:  Front Immunol       Date:  2020-06-10       Impact factor: 7.561
  2 in total

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