Literature DB >> 24985406

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

Mona Hedayat1, Michel J Massaad1, Yu Nee Lee1, Mary Ellen Conley2, Jordan S Orange3, Toshiro K Ohsumi4, Waleed Al-Herz5, Luigi D Notarangelo1, Raif S Geha1, Janet Chou6.   

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Year:  2014        PMID： 24985406      PMCID： PMC4186892          DOI： 10.1016/j.jaci.2014.04.037

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


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  9 in total

1.  Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.

Authors:  Jennifer M Puck
Journal:  J Allergy Clin Immunol       Date:  2012-01-29       Impact factor: 10.793

2.  Regions of RAG1 protein critical for V(D)J recombination.

Authors:  S A Kirch; P Sudarsanam; M A Oettinger
Journal:  Eur J Immunol       Date:  1996-04       Impact factor: 5.532

Review 3.  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 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.  Novel RAG1 mutation in a case of severe combined immunodeficiency.

Authors:  Junyan Zhang; Linda Quintal; Adelle Atkinson; Brent Williams; Eyal Grunebaum; Chaim M Roifman
Journal:  Pediatrics       Date:  2005-08-01       Impact factor: 7.124

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

Authors:  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
Journal:  J Allergy Clin Immunol       Date:  2012-07-25       Impact factor: 10.793

7.  Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.

Authors:  Stephan Borte; Ulrika von Döbeln; Anders Fasth; Ning Wang; Magdalena Janzi; Jacek Winiarski; Ulrich Sack; Qiang Pan-Hammarström; Michael Borte; Lennart Hammarström
Journal:  Blood       Date:  2011-11-30       Impact factor: 22.113

Review 8.  RAG and RAG defects.

Authors:  L D Notarangelo; A Villa; K Schwarz
Journal:  Curr Opin Immunol       Date:  1999-08       Impact factor: 7.486

9.  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
  9 in total
  5 in total

1.  Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.

Authors:  Christoph B Geier; Alexander Piller; Angela Linder; Kai M T Sauerwein; Martha M Eibl; Hermann M Wolf
Journal:  PLoS One       Date:  2015-07-17       Impact factor: 3.240

2.  Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Authors:  Cristina Cifaldi; Immacolata Brigida; Federica Barzaghi; Matteo Zoccolillo; Valentina Ferradini; Davide Petricone; Maria Pia Cicalese; Dejan Lazarevic; Davide Cittaro; Maryam Omrani; Enrico Attardi; Francesca Conti; Alessia Scarselli; Maria Chiriaco; Silvia Di Cesare; Francesco Licciardi; Montin Davide; Francesca Ferrua; Clementina Canessa; Claudio Pignata; Silvia Giliani; Simona Ferrari; Georgia Fousteri; Graziano Barera; Pietro Merli; Paolo Palma; Simone Cesaro; Marco Gattorno; Antonio Trizzino; Viviana Moschese; Loredana Chini; Anna Villa; Chiara Azzari; Andrea Finocchi; Franco Locatelli; Paolo Rossi; Federica Sangiuolo; Alessandro Aiuti; Caterina Cancrini; Gigliola Di Matteo
Journal:  Front Immunol       Date:  2019-04-11       Impact factor: 7.561

Review 3.  Recent advances in understanding RAG deficiencies.

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

4.  DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.

Authors:  Waleed Al-Herz; Michel J Massaad; Janet Chou; Luigi D Notarangelo; Raif S Geha
Journal:  Clin Immunol       Date:  2017-10-16       Impact factor: 3.969

5.  Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.

Authors:  Christoph B Geier; Jocelyn R Farmer; Zsofia Foldvari; Boglarka Ujhazi; Jolanda Steininger; John W Sleasman; Suhag Parikh; Meredith A Dilley; Sung-Yun Pai; Lauren Henderson; Melissa Hazen; Benedicte Neven; Despina Moshous; Svetlana O Sharapova; Snezhina Mihailova; Petya Yankova; Elisaveta Naumova; Seza Özen; Kevin Byram; James Fernandez; Hermann M Wolf; Martha M Eibl; Luigi D Notarangelo; Leonard H Calabrese; Jolan E Walter
Journal:  Front Immunol       Date:  2020-10-21       Impact factor: 7.561
  5 in total

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