Literature DB >> 29410113

Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.

Vera Goda1, Aniko Malik2, Tibor Kalmar3, Zoltan Maroti3, Bhumika Patel4, Boglarka Ujhazi4, Krisztian Csomos4, Jaime E Hale5, Karin Chen6, Jacob Bleesing7, Paolo Palma8, Caterina Cancrini8, Anne M Comeau5, Gergely Krivan1, Jolan E Walter9.   

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Year:  2018        PMID: 29410113      PMCID: PMC6072614          DOI: 10.1016/j.jaip.2018.01.015

Source DB:  PubMed          Journal:  J Allergy Clin Immunol Pract


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  9 in total

1.  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 2.  Severe autoimmune cytopenias in treatment-naive hepatitis C virus infection: clinical description of 35 cases.

Authors:  Manuel Ramos-Casals; Mario García-Carrasco; Francisco López-Medrano; Olga Trejo; Xavier Forns; Armando López-Guillermo; Carles Muñoz; Miguel Ingelmo; Josep Font
Journal:  Medicine (Baltimore)       Date:  2003-03       Impact factor: 1.889

Review 3.  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

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

Authors:  Lauren A Henderson; Francesco Frugoni; Gregory Hopkins; Helen de Boer; Sung-Yun Pai; Yu Nee Lee; Jolan E Walter; Melissa M Hazen; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-07-24       Impact factor: 10.793

Review 5.  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

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

Authors:  Karin Chen; Wilfred Wu; Divij Mathew; Yuhua Zhang; Sarah K Browne; Lindsey B Rosen; Meghann P McManus; Michael A Pulsipher; Mark Yandell; John F Bohnsack; Lynn B Jorde; Luigi D Notarangelo; Jolan E Walter
Journal:  J Allergy Clin Immunol       Date:  2014-01-25       Impact factor: 10.793

7.  Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Authors:  Jolan E Walter; Lindsey B Rosen; Krisztian Csomos; Jacob M Rosenberg; Divij Mathew; Marton Keszei; Boglarka Ujhazi; Karin Chen; Yu Nee Lee; Irit Tirosh; Kerry Dobbs; Waleed Al-Herz; Morton J Cowan; Jennifer Puck; Jack J Bleesing; Michael S Grimley; Harry Malech; Suk See De Ravin; Andrew R Gennery; Roshini S Abraham; Avni Y Joshi; Thomas G Boyce; Manish J Butte; Kari C Nadeau; Imelda Balboni; Kathleen E Sullivan; Javeed Akhter; Mehdi Adeli; Reem A El-Feky; Dalia H El-Ghoneimy; Ghassan Dbaibo; Rima Wakim; Chiara Azzari; Paolo Palma; Caterina Cancrini; Kelly Capuder; Antonio Condino-Neto; Beatriz T Costa-Carvalho; Joao Bosco Oliveira; Chaim Roifman; David Buchbinder; Attila Kumanovics; Jose Luis Franco; Tim Niehues; Catharina Schuetz; Taco Kuijpers; Christina Yee; Janet Chou; Michel J Masaad; Raif Geha; Gulbu Uzel; Rebecca Gelman; Steven M Holland; Mike Recher; Paul J Utz; Sarah K Browne; Luigi D Notarangelo
Journal:  J Clin Invest       Date:  2015-10-12       Impact factor: 14.808

8.  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.  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
  12 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.  Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Authors:  Jocelyn R Farmer; Zsofia Foldvari; Boglarka Ujhazi; Suk See De Ravin; Karin Chen; Jack J H Bleesing; Catharina Schuetz; Waleed Al-Herz; Roshini S Abraham; Avni Y Joshi; Beatriz T Costa-Carvalho; David Buchbinder; Claire Booth; Andreas Reiff; Polly J Ferguson; Asghar Aghamohammadi; Hassan Abolhassani; Jennifer M Puck; Mehdi Adeli; Caterina Cancrini; Paolo Palma; Alice Bertaina; Franco Locatelli; Gigliola Di Matteo; Raif S Geha; Maria G Kanariou; Lilia Lycopoulou; Marianna Tzanoudaki; John W Sleasman; Suhag Parikh; Gloria Pinero; Bernard M Fischer; Ghassan Dbaibo; Ekrem Unal; Turkan Patiroglu; Musa Karakukcu; Khulood Khalifa Al-Saad; Meredith A Dilley; Sung-Yun Pai; Cullen M Dutmer; Erwin W Gelfand; Christoph B Geier; Martha M Eibl; Hermann M Wolf; Lauren A Henderson; Melissa M Hazen; Carmem Bonfim; Beata Wolska-Kuśnierz; Manish J Butte; Joseph D Hernandez; Sarah K Nicholas; Polina Stepensky; Shanmuganathan Chandrakasan; Maurizio Miano; Emma Westermann-Clark; Vera Goda; Gergely Kriván; Steven M Holland; Olajumoke Fadugba; Sarah E Henrickson; Ahmet Ozen; Elif Karakoc-Aydiner; Safa Baris; Ayca Kiykim; Robbert Bredius; Birgit Hoeger; Kaan Boztug; Olga Pashchenko; Benedicte Neven; Despina Moshous; Jean-Pierre de Villartay; Ahmed Aziz Bousfiha; Harry R Hill; Luigi D Notarangelo; Jolan E Walter
Journal:  J Allergy Clin Immunol Pract       Date:  2019-03-12

3.  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 4.  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

Review 5.  Recent advances in understanding RAG deficiencies.

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

Review 6.  Autoimmunity as a continuum in primary immunodeficiency.

Authors:  Jolan E Walter; Irmel A Ayala; Diana Milojevic
Journal:  Curr Opin Pediatr       Date:  2019-12       Impact factor: 2.856

Review 7.  Corticosteroids Contribute to Serious Adverse Events Following Live Attenuated Varicella Vaccination and Live Attenuated Zoster Vaccination.

Authors:  Nathan B Price; Charles Grose
Journal:  Vaccines (Basel)       Date:  2021-01-06

8.  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

9.  Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency.

Authors:  Mayra B Dorna; Pamela F A Barbosa; Andréia Rangel-Santos; Krisztian Csomos; Boglarka Ujhazi; Joseph F Dasso; Daniel Thwaites; Joan Boyes; Sinisa Savic; Jolan E Walter
Journal:  Front Pediatr       Date:  2019-04-16       Impact factor: 3.418

10.  Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.

Authors:  Maria Chitty-Lopez; Emma Westermann-Clark; Irina Dawson; Boglarka Ujhazi; Krisztian Csomos; Kerry Dobbs; Khuong Le; Yasuhiro Yamazaki; Amir A Sadighi Akha; Deepak Chellapandian; Ben Oshrine; Luigi D Notarangelo; Gauri Sunkersett; Jennifer W Leiding; Jolan E Walter
Journal:  Front Immunol       Date:  2020-09-29       Impact factor: 7.561

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